Entrez Gene

Basic Information
Gene ID	4928
Name	NUP98
Synonymous	nucleoporin 98kDa;NUP98;nucleoporin 98kDa
Definition	GLFG-repeat containing nucleoporin\|Nup98-Nup96\|nuclear pore complex protein Nup98-Nup96\|nucleoporin 98kD
Position	11p15.5
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

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.11.

The copy number variations for various cancers

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

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.14C>T; p.S5L; 11:3782104-3782104	skin	malignant_melanoma	Substitution - Missense
c.487A>G; p.K163E; 11:3775890-3775890	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3245G>A; p.S1082N; 11:3702730-3702730	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.14C>T; p.S5L; 11:3782104-3782104	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2914C>T; p.H972Y; 11:3706456-3706456	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3063G>A; p.S1021S; 11:3705219-3705219	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4099C>T; p.Q1367*; 11:3695517-3695517	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1096G>A; p.G366S; 11:3760617-3760617	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1658C>A; p.T553K; 11:3731463-3731463	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3244A>T; p.S1082C; 11:3702731-3702731	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3244A>T; p.S1082C; 11:3702731-3702731	stomach	adenocarcinoma	Substitution - Missense
c.1705C>T; p.L569L; 11:3731416-3731416	breast	carcinoma	Substitution - coding silent
c.4144T>C; p.F1382L; 11:3695472-3695472	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4934A>G; p.E1645G; 11:3679693-3679693	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4349T>G; p.L1450R; 11:3691452-3691452	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5216G>A; p.R1739H; 11:3676346-3676346	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3263C>G; p.P1088R; 11:3702712-3702712	skin	malignant_melanoma	Substitution - Missense
c.295A>G; p.T99A; 11:3778933-3778933	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.463G>C; p.A155P; 11:3775914-3775914	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1991G>A; p.S664N; 11:3723312-3723312	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4660C>T; p.H1554Y; 11:3685989-3685989	breast	carcinoma	Substitution - Missense
c.580G>T; p.E194*; 11:3773655-3773655	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4124A>T; p.Q1375L; 11:3695492-3695492	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4681C>T; p.R1561C; 11:3683437-3683437	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.365C>T; p.T122I; 11:3776012-3776012	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.415C>T; p.P139S; 11:3775962-3775962	skin	malignant_melanoma	Substitution - Missense
c.3621A>G; p.K1207K; 11:3700731-3700731	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4391A>C; p.E1464A; 11:3691410-3691410	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1631G>A; p.R544Q; 11:3731490-3731490	ovary	other; neoplasm	Substitution - Missense
c.785-19_785-9delTTTTTCTTTTT; p.?; 11:3768753-3768763	stomach	carcinoma; adenocarcinoma	Unknown
c.4311+10G>A; p.?; 11:3693222-3693222	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.1631G>A; p.R544Q; 11:3731490-3731490	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.4155G>T; p.L1385F; 11:3695461-3695461	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.4277C>G; p.S1426C; 11:3693266-3693266	ovary	carcinoma; clear_cell_carcinoma	Substitution - Missense
c.525A>C; p.K175N; 11:3773710-3773710	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2743-9T>A; p.?; 11:3706636-3706636	liver	carcinoma	Unknown
c.2743-9T>A; p.?; 11:3706636-3706636	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.4131G>A; p.E1377E; 11:3695485-3695485	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2971G>A; p.A991T; 11:3705311-3705311	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4955G>T; p.G1652V; 11:3679672-3679672	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.4955G>T; p.G1652V; 11:3679672-3679672	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.4595A>T; p.Q1532L; 11:3686054-3686054	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5045T>C; p.V1682A; 11:3679582-3679582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1331G>A; p.G444D; 11:3744586-3744586	pancreas	carcinoma	Substitution - Missense
c.3380G>A; p.R1127H; 11:3702595-3702595	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.2018C>G; p.A673G; 11:3723285-3723285	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.4262C>A; p.P1421Q; 11:3693281-3693281	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.693T>C; p.S231S; 11:3771839-3771839	thyroid	other; neoplasm	Substitution - coding silent
c.3297C>A; p.G1099G; 11:3702678-3702678	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2516C>G; p.S839*; 11:3713879-3713879	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1715G>C; p.G572A; 11:3731406-3731406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.35delG; p.G12fs*171; 11:3782083-3782083	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4784C>T; p.P1595L; 11:3683334-3683334	skin	malignant_melanoma	Substitution - Missense
c.3251C>T; p.A1084V; 11:3702724-3702724	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4414C>T; p.R1472*; 11:3691387-3691387	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2781G>T; p.V927V; 11:3706589-3706589	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4102C>A; p.L1368I; 11:3695514-3695514	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4245T>G; p.L1415L; 11:3693298-3693298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5062C>T; p.H1688Y; 11:3679565-3679565	skin	malignant_melanoma	Substitution - Missense
c.251C>G; p.S84*; 11:3778977-3778977	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.4051A>G; p.S1351G; 11:3695565-3695565	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1730A>C; p.K577T; 11:3731391-3731391	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4798C>T; p.H1600Y; 11:3683320-3683320	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.251C>G; p.S84*; 11:3778977-3778977	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.473C>A; p.T158N; 11:3775904-3775904	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4284G>A; p.A1428A; 11:3693259-3693259	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2059A>T; p.S687C; 11:3723244-3723244	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.5078A>G; p.D1693G; 11:3676616-3676616	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2449C>A; p.R817S; 11:3713946-3713946	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5273C>A; p.P1758H; 11:3676289-3676289	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1297G>A; p.G433R; 11:3744620-3744620	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.441C>A; p.L147L; 11:3775936-3775936	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4471C>A; p.Q1491K; 11:3686178-3686178	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.441C>A; p.L147L; 11:3775936-3775936	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4852C>T; p.L1618F; 11:3683266-3683266	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5140G>A; p.E1714K; 11:3676554-3676554	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1655G>A; p.G552D; 11:3731466-3731466	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.3260T>C; p.V1087A; 11:3702715-3702715	skin	malignant_melanoma	Substitution - Missense
c.3283C>T; p.R1095C; 11:3702692-3702692	pancreas	carcinoma	Substitution - Missense
c.3283C>T; p.R1095C; 11:3702692-3702692	pancreas	carcinoma	Substitution - Missense
c.5009A>G; p.E1670G; 11:3679618-3679618	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3161C>T; p.P1054L; 11:3702814-3702814	skin	malignant_melanoma	Substitution - Missense
c.3283C>T; p.R1095C; 11:3702692-3702692	pancreas	carcinoma	Substitution - Missense
c.5331G>T; p.E1777D; 11:3676231-3676231	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5339C>G; p.A1780G; 11:3676223-3676223	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1409-6delT; p.?; 11:3735330-3735330	NS	malignant_melanoma	Unknown
c.4193A>C; p.Q1398P; 11:3693350-3693350	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2983C>T; p.R995C; 11:3705299-3705299	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2983C>T; p.R995C; 11:3705299-3705299	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.564T>C; p.C188C; 11:3773671-3773671	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3104A>C; p.K1035T; 11:3702871-3702871	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2147-8_2147-7insT; p.?; 11:3720832-3720833	skin	malignant_melanoma	Unknown
c.2006A>G; p.D669G; 11:3723297-3723297	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2147-8_2147-7insT; p.?; 11:3720832-3720833	skin	malignant_melanoma	Unknown
c.410C>G; p.S137C; 11:3775967-3775967	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5169T>C; p.D1723D; 11:3676525-3676525	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3459G>T; p.Q1153H; 11:3702516-3702516	breast	carcinoma	Substitution - Missense
c.3301G>A; p.V1101I; 11:3702674-3702674	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3301G>A; p.V1101I; 11:3702674-3702674	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2655G>C; p.K885N; 11:3712651-3712651	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4167G>A; p.P1389P; 11:3695449-3695449	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1256G>A; p.G419E; 11:3753327-3753327	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4571C>T; p.S1524L; 11:3686078-3686078	breast	carcinoma	Substitution - Missense
c.1946C>T; p.P649L; 11:3723357-3723357	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1196G>A; p.G399E; 11:3753387-3753387	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2080C>A; p.H694N; 11:3723223-3723223	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2097G>T; p.Q699H; 11:3723206-3723206	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4569C>G; p.L1523L; 11:3686080-3686080	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2451T>C; p.R817R; 11:3713944-3713944	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1864A>G; p.K622E; 11:3723439-3723439	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1877A>G; p.E626G; 11:3723426-3723426	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.5046C>T; p.V1682V; 11:3679581-3679581	skin	malignant_melanoma	Substitution - coding silent
c.3853C>T; p.R1285*; 11:3699238-3699238	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5003A>G; p.D1668G; 11:3679624-3679624	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.878C>T; p.T293I; 11:3768651-3768651	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.4504C>T; p.P1502S; 11:3686145-3686145	skin	malignant_melanoma	Substitution - Missense
c.506G>A; p.G169D; 11:3773729-3773729	pancreas	carcinoma	Substitution - Missense
c.5003A>G; p.D1668G; 11:3679624-3679624	stomach	adenocarcinoma	Substitution - Missense
c.411T>C; p.S137S; 11:3775966-3775966	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2670T>C; p.A890A; 11:3712636-3712636	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1090C>T; p.L364L; 11:3760623-3760623	skin	malignant_melanoma	Substitution - coding silent
c.1249G>A; p.G417S; 11:3753334-3753334	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1649C>G; p.T550R; 11:3731472-3731472	breast	carcinoma	Substitution - Missense
c.3910G>T; p.E1304*; 11:3699181-3699181	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1626_1632delAGTCCGG; p.R542fs*26; 11:3731489-3731495	breast	carcinoma	Deletion - Frameshift
c.876T>C; p.A292A; 11:3768653-3768653	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4940A>G; p.Y1647C; 11:3679687-3679687	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.111T>G; p.F37L; 11:3779223-3779223	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1190C>A; p.T397N; 11:3753393-3753393	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1340C>T; p.A447V; 11:3744577-3744577	skin; trunk	malignant_melanoma	Substitution - Missense
c.1038A>G; p.G346G; 11:3762950-3762950	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.4787C>T; p.A1596V; 11:3683331-3683331	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3932delA; p.N1311fs*89; 11:3699159-3699159	skin	malignant_melanoma	Deletion - Frameshift
c.76+5G>A; p.?; 11:3782037-3782037	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.5218G>A; p.V1740M; 11:3676344-3676344	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3932delA; p.N1311fs*89; 11:3699159-3699159	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.265A>G; p.N89D; 11:3778963-3778963	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4696C>T; p.R1566*; 11:3683422-3683422	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4028T>A; p.L1343H; 11:3695588-3695588	kidney	other; neoplasm	Substitution - Missense
c.4000C>T; p.Q1334*; 11:3699091-3699091	skin	malignant_melanoma	Substitution - Nonsense
c.784A>G; p.S262G; 11:3771748-3771748	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.4090G>A; p.D1364N; 11:3695526-3695526	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5341A>G; p.M1781V; 11:3676221-3676221	central_nervous_system; brain	glioma	Substitution - Missense
c.140A>G; p.N47S; 11:3779194-3779194	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4071G>A; p.L1357L; 11:3695545-3695545	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4139G>A; p.R1380H; 11:3695477-3695477	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1888C>A; p.Q630K; 11:3723415-3723415	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.610C>T; p.R204C; 11:3771922-3771922	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4521A>G; p.L1507L; 11:3686128-3686128	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3668A>G; p.N1223S; 11:3700684-3700684	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.610C>T; p.R204C; 11:3771922-3771922	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3225T>G; p.T1075T; 11:3702750-3702750	skin	malignant_melanoma	Substitution - coding silent
c.5353C>T; p.R1785C; 11:3676209-3676209	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5353C>T; p.R1785C; 11:3676209-3676209	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5307C>T; p.H1769H; 11:3676255-3676255	liver	carcinoma	Substitution - coding silent
c.4801G>A; p.E1601K; 11:3683317-3683317	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4984C>T; p.R1662C; 11:3679643-3679643	breast	carcinoma	Substitution - Missense
c.4678A>G; p.I1560V; 11:3683440-3683440	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2009_2022del14; p.T670fs*15; 11:3723281-3723294	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.947T>C; p.M316T; 11:3768582-3768582	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3533A>G; p.K1178R; 11:3700819-3700819	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4574C>T; p.A1525V; 11:3686075-3686075	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1613G>C; p.R538P; 11:3731508-3731508	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	Substitution - Missense
c.2042G>A; p.R681Q; 11:3723261-3723261	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1613G>C; p.R538P; 11:3731508-3731508	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2313G>T; p.L771F; 11:3719498-3719498	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3925_3926insA; p.N1311fs*18; 11:3699165-3699166	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.64A>G; p.T22A; 11:3782054-3782054	breast	carcinoma	Substitution - Missense
c.4303G>A; p.A1435T; 11:3693240-3693240	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4486C>T; p.R1496*; 11:3686163-3686163	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4686G>A; p.E1562E; 11:3683432-3683432	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.164C>T; p.S55L; 11:3779170-3779170	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1368_1369delGA; p.T457fs*33; 11:3744548-3744549	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1847G>A; p.R616K; 11:3725103-3725103	skin; trunk	malignant_melanoma	Substitution - Missense
c.2507A>T; p.E836V; 11:3713888-3713888	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.4776C>T; p.L1592L; 11:3683342-3683342	breast	carcinoma; HER-positive_carcinoma	Substitution - coding silent
c.4776C>T; p.L1592L; 11:3683342-3683342	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3714A>G; p.E1238E; 11:3700638-3700638	breast	carcinoma	Substitution - coding silent
c.2336G>T; p.R779M; 11:3719475-3719475	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.493A>G; p.N165D; 11:3775884-3775884	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4501G>T; p.D1501Y; 11:3686148-3686148	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2824T>A; p.L942M; 11:3706546-3706546	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.2824T>A; p.L942M; 11:3706546-3706546	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.2984G>A; p.R995H; 11:3705298-3705298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2824T>A; p.L942M; 11:3706546-3706546	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1795C>T; p.R599C; 11:3725155-3725155	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.3676G>A; p.V1226I; 11:3700676-3700676	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.428C>T; p.T143I; 11:3775949-3775949	skin	malignant_melanoma	Substitution - Missense
c.2221G>A; p.G741R; 11:3720751-3720751	skin	malignant_melanoma	Substitution - Missense
c.2227T>C; p.C743R; 11:3720745-3720745	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4608T>G; p.A1536A; 11:3686041-3686041	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2269T>C; p.S757P; 11:3719542-3719542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.437C>T; p.S146F; 11:3775940-3775940	skin	malignant_melanoma	Substitution - Missense
c.3893C>T; p.T1298I; 11:3699198-3699198	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4593A>G; p.L1531L; 11:3686056-3686056	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.4903C>T; p.R1635*; 11:3683215-3683215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3788G>T; p.W1263L; 11:3699303-3699303	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2054A>G; p.E685G; 11:3723249-3723249	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5281G>A; p.V1761I; 11:3676281-3676281	skin; trunk	malignant_melanoma	Substitution - Missense
c.1174+10C>T; p.?; 11:3760529-3760529	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.1172T>C; p.F391S; 11:3760541-3760541	skin	malignant_melanoma	Substitution - Missense
c.2363A>T; p.D788V; 11:3719448-3719448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1174+10C>T; p.?; 11:3760529-3760529	urinary_tract; bladder	carcinoma	Unknown
c.2473C>T; p.R825C; 11:3713922-3713922	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5374C>T; p.L1792L; 11:3676188-3676188	breast	carcinoma	Substitution - coding silent
c.2473C>T; p.R825C; 11:3713922-3713922	skin	malignant_melanoma	Substitution - Missense
c.2992C>T; p.R998C; 11:3705290-3705290	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3658A>G; p.I1220V; 11:3700694-3700694	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1250G>A; p.G417D; 11:3753333-3753333	skin	malignant_melanoma	Substitution - Missense
c.1162G>A; p.G388S; 11:3760551-3760551	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2977G>A; p.D993N; 11:3705305-3705305	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1142C>G; p.P381R; 11:3760571-3760571	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3442G>T; p.E1148*; 11:3702533-3702533	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1311T>C; p.P437P; 11:3744606-3744606	prostate	carcinoma	Substitution - coding silent
c.1374_1375delCA; p.T459fs*31; 11:3744542-3744543	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - Frameshift
c.2483A>C; p.D828A; 11:3713912-3713912	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2281G>A; p.E761K; 11:3719530-3719530	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2041C>T; p.R681*; 11:3723262-3723262	NS	NS	Substitution - Nonsense
c.1616C>T; p.P539L; 11:3731505-3731505	ovary	other; neoplasm	Substitution - Missense
c.2444C>T; p.T815I; 11:3713951-3713951	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3881C>G; p.S1294C; 11:3699210-3699210	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2116G>T; p.E706*; 11:3723187-3723187	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.2136G>A; p.M712I; 11:3723167-3723167	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.940A>T; p.N314Y; 11:3768589-3768589	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2956G>A; p.E986K; 11:3705326-3705326	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.214G>C; p.A72P; 11:3779014-3779014	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2548C>G; p.R850G; 11:3713847-3713847	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2728G>A; p.A910T; 11:3712578-3712578	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2080C>T; p.H694Y; 11:3723223-3723223	skin	malignant_melanoma	Substitution - Missense
c.601G>C; p.E201Q; 11:3773634-3773634	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1772_1774delGCA; p.S591delS; 11:3725176-3725178	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Deletion - In frame
c.1211G>A; p.G404E; 11:3753372-3753372	breast	carcinoma	Substitution - Missense
c.1798G>A; p.D600N; 11:3725152-3725152	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4064G>A; p.R1355Q; 11:3695552-3695552	central_nervous_system; brain	glioma	Substitution - Missense
c.4373G>T; p.G1458V; 11:3691428-3691428	skin	malignant_melanoma	Substitution - Missense
c.3655C>T; p.L1219F; 11:3700697-3700697	skin	malignant_melanoma	Substitution - Missense
c.2629_2631delGAG; p.E877delE; 11:3712675-3712677	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.3147A>G; p.Q1049Q; 11:3702828-3702828	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4794G>T; p.W1598C; 11:3683324-3683324	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2687G>A; p.S896N; 11:3712619-3712619	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4052G>T; p.S1351I; 11:3695564-3695564	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2873C>T; p.S958F; 11:3706497-3706497	liver	carcinoma	Substitution - Missense
c.4095G>A; p.W1365*; 11:3695521-3695521	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4095G>A; p.W1365*; 11:3695521-3695521	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4479G>A; p.L1493L; 11:3686170-3686170	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4755G>T; p.E1585D; 11:3683363-3683363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4838A>G; p.K1613R; 11:3683280-3683280	pancreas	carcinoma	Substitution - Missense
c.1179delT; p.F393fs*77; 11:3753404-3753404	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4455A>G; p.R1485R; 11:3686194-3686194	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4755G>T; p.E1585D; 11:3683363-3683363	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4166C>T; p.P1389L; 11:3695450-3695450	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3379C>T; p.R1127C; 11:3702596-3702596	skin	malignant_melanoma	Substitution - Missense
c.1565C>T; p.A522V; 11:3731556-3731556	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2105G>A; p.R702Q; 11:3723198-3723198	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.967C>G; p.Q323E; 11:3763021-3763021	ovary	other; neoplasm	Substitution - Missense
c.2152A>T; p.I718F; 11:3720820-3720820	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2152A>T; p.I718F; 11:3720820-3720820	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2152A>T; p.I718F; 11:3720820-3720820	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5323A>G; p.M1775V; 11:3676239-3676239	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2152A>T; p.I718F; 11:3720820-3720820	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2152A>T; p.I718F; 11:3720820-3720820	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2152A>T; p.I718F; 11:3720820-3720820	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2152A>T; p.I718F; 11:3720820-3720820	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4487G>A; p.R1496Q; 11:3686162-3686162	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2152A>T; p.I718F; 11:3720820-3720820	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1478A>T; p.Y493F; 11:3735255-3735255	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3893C>G; p.T1298R; 11:3699198-3699198	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1478A>T; p.Y493F; 11:3735255-3735255	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3431A>C; p.N1144T; 11:3702544-3702544	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.469C>T; p.P157S; 11:3775908-3775908	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.373A>G; p.S125G; 11:3776004-3776004	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.250T>C; p.S84P; 11:3778978-3778978	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3307C>T; p.R1103C; 11:3702668-3702668	breast	carcinoma	Substitution - Missense
c.4415G>A; p.R1472Q; 11:3691386-3691386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.320A>T; p.N107I; 11:3778908-3778908	stomach	adenocarcinoma	Substitution - Missense
c.1894G>A; p.G632R; 11:3723409-3723409	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3751C>T; p.H1251Y; 11:3699340-3699340	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3272C>T; p.T1091I; 11:3702703-3702703	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1918C>T; p.H640Y; 11:3723385-3723385	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.448C>A; p.P150T; 11:3775929-3775929	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.464C>T; p.A155V; 11:3775913-3775913	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.292G>A; p.G98R; 11:3778936-3778936	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.5058C>T; p.L1686L; 11:3679569-3679569	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2699C>T; p.P900L; 11:3712607-3712607	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.3919T>G; p.L1307V; 11:3699172-3699172	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4691C>A; p.A1564D; 11:3683427-3683427	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.640G>A; p.G214S; 11:3771892-3771892	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1545A>T; p.R515S; 11:3731576-3731576	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4679T>C; p.I1560T; 11:3683439-3683439	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.988C>A; p.L330I; 11:3763000-3763000	breast	carcinoma	Substitution - Missense
c.5295C>T; p.L1765L; 11:3676267-3676267	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5290C>T; p.R1764C; 11:3676272-3676272	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3424C>G; p.Q1142E; 11:3702551-3702551	skin	malignant_melanoma	Substitution - Missense
c.1267+1G>A; p.?; 11:3753315-3753315	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2700C>T; p.P900P; 11:3712606-3712606	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.533T>G; p.V178G; 11:3773702-3773702	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1443G>T; p.Q481H; 11:3735290-3735290	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3517A>G; p.T1173A; 11:3700835-3700835	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1238G>A; p.G413E; 11:3753345-3753345	skin	malignant_melanoma	Substitution - Missense
c.2744G>T; p.S915I; 11:3706626-3706626	liver	carcinoma	Substitution - Missense
c.1238G>A; p.G413E; 11:3753345-3753345	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1477T>C; p.Y493H; 11:3735256-3735256	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2744G>T; p.S915I; 11:3706626-3706626	liver	carcinoma	Substitution - Missense
c.1238G>A; p.G413E; 11:3753345-3753345	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1636A>G; p.K546E; 11:3731485-3731485	skin	malignant_melanoma	Substitution - Missense
c.3136G>T; p.V1046F; 11:3702839-3702839	pancreas	carcinoma	Substitution - Missense
c.1613G>A; p.R538H; 11:3731508-3731508	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1613G>A; p.R538H; 11:3731508-3731508	skin	malignant_melanoma	Substitution - Missense
c.2061C>A; p.S687R; 11:3723242-3723242	thyroid	other; neoplasm	Substitution - Missense
c.259A>T; p.T87S; 11:3778969-3778969	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2126C>G; p.S709C; 11:3723177-3723177	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1047C>T; p.L349L; 11:3762941-3762941	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2546A>G; p.Y849C; 11:3713849-3713849	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2933A>G; p.K978R; 11:3705349-3705349	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4966G>A; p.D1656N; 11:3679661-3679661	breast	carcinoma	Substitution - Missense
c.1788T>G; p.P596P; 11:3725162-3725162	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1777C>G; p.L593V; 11:3725173-3725173	pleura	pulmonary_blastoma	Substitution - Missense
c.4535G>A; p.W1512*; 11:3686114-3686114	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3869C>T; p.S1290F; 11:3699222-3699222	skin; shoulder	malignant_melanoma	Substitution - Missense
c.1988A>G; p.N663S; 11:3723315-3723315	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4283C>T; p.A1428V; 11:3693260-3693260	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2487C>T; p.I829I; 11:3713908-3713908	skin	malignant_melanoma	Substitution - coding silent
c.4351C>T; p.P1451S; 11:3691450-3691450	skin	malignant_melanoma	Substitution - Missense
c.4351C>T; p.P1451S; 11:3691450-3691450	skin	malignant_melanoma	Substitution - Missense
c.1561C>A; p.P521T; 11:3731560-3731560	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1561C>A; p.P521T; 11:3731560-3731560	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1408G>T; p.A470S; 11:3744509-3744509	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5197C>T; p.R1733C; 11:3676365-3676365	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.4351C>T; p.P1451S; 11:3691450-3691450	skin; arm	malignant_melanoma	Substitution - Missense
c.1907C>T; p.S636F; 11:3723396-3723396	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.1738A>G; p.I580V; 11:3725212-3725212	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.3633_3634CC>TT; p.H1212Y; 11:3700718-3700719	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5093A>C; p.D1698A; 11:3676601-3676601	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1858C>A; p.L620I; 11:3723445-3723445	stomach	carcinoma; adenocarcinoma	Substitution - Missense

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]