Entrez Gene

Basic Information
Gene ID	64579
Name	NDST4
Synonymous	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4;NDST4;N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4
Definition	N-HSST 4\|N-heparan sulfate sulfotransferase 4\|bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4\|glucosaminyl N-deacetylase/N-sulfotransferase 4
Position	4q26
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 0.08.

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.1480G>A; p.E494K; 4:114935262-114935262	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2499+9T>G; p.?; 4:114829781-114829781	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2077C>T; p.L693F; 4:114845861-114845861	skin	malignant_melanoma	Substitution - Missense
c.118G>A; p.E40K; 4:115076919-115076919	skin	malignant_melanoma	Substitution - Missense
c.2087C>T; p.P696L; 4:114845851-114845851	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.590C>T; p.P197L; 4:115076447-115076447	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.912C>T; p.I304I; 4:115076125-115076125	skin	malignant_melanoma	Substitution - coding silent
c.1963C>T; p.P655S; 4:114845975-114845975	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1764G>A; p.E588E; 4:114852777-114852777	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1228G>A; p.G410R; 4:114937497-114937497	skin	malignant_melanoma	Substitution - Missense
c.1049G>A; p.G350E; 4:114977204-114977204	skin	malignant_melanoma	Substitution - Missense
c.859G>T; p.A287S; 4:115076178-115076178	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1934T>C; p.I645T; 4:114848221-114848221	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1845T>A; p.L615L; 4:114848310-114848310	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1236A>G; p.P412P; 4:114937489-114937489	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2091A>G; p.S697S; 4:114845847-114845847	breast	carcinoma	Substitution - coding silent
c.2315G>A; p.R772K; 4:114833687-114833687	skin	malignant_melanoma	Substitution - Missense
c.376G>A; p.G126R; 4:115076661-115076661	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1103T>G; p.L368R; 4:114970548-114970548	skin	malignant_melanoma	Substitution - Missense
c.906G>A; p.R302R; 4:115076131-115076131	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1961C>T; p.T654I; 4:114845977-114845977	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.289G>A; p.A97T; 4:115076748-115076748	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.996A>C; p.Q332H; 4:114977257-114977257	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1719+4A>G; p.?; 4:114870764-114870764	ovary	other; neoplasm	Unknown
c.1409T>A; p.V470D; 4:114935333-114935333	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.177A>G; p.P59P; 4:115076860-115076860	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2365A>G; p.T789A; 4:114833637-114833637	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.35G>A; p.R12Q; 4:115077002-115077002	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.727T>A; p.S243T; 4:115076310-115076310	small_intestine	carcinoid-endocrine_tumour	Substitution - Missense
c.1902G>T; p.Q634H; 4:114848253-114848253	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.508A>T; p.N170Y; 4:115076529-115076529	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2019G>C; p.S673S; 4:114845919-114845919	skin	malignant_melanoma	Substitution - coding silent
c.548A>G; p.N183S; 4:115076489-115076489	skin	malignant_melanoma	Substitution - Missense
c.956G>T; p.R319M; 4:115076081-115076081	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1930G>T; p.G644*; 4:114848225-114848225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2284C>G; p.Q762E; 4:114839380-114839380	urinary_tract; bladder	carcinoma	Substitution - Missense
c.742T>A; p.S248T; 4:115076295-115076295	thyroid	other; neoplasm	Substitution - Missense
c.2160C>A; p.F720L; 4:114839504-114839504	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.195G>T; p.L65L; 4:115076842-115076842	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1107G>T; p.R369R; 4:114970544-114970544	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2576C>T; p.P859L; 4:114827859-114827859	skin	malignant_melanoma	Substitution - Missense
c.1255G>C; p.V419L; 4:114937470-114937470	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.356C>T; p.P119L; 4:115076681-115076681	skin	malignant_melanoma	Substitution - Missense
c.1219C>A; p.L407M; 4:114970432-114970432	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.659G>A; p.W220*; 4:115076378-115076378	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.177A>T; p.P59P; 4:115076860-115076860	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1760G>A; p.R587K; 4:114852781-114852781	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2076C>T; p.I692I; 4:114845862-114845862	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1956C>T; p.F652F; 4:114845982-114845982	skin	malignant_melanoma	Substitution - coding silent
c.1956C>T; p.F652F; 4:114845982-114845982	skin	malignant_melanoma	Substitution - coding silent
c.1220T>C; p.L407P; 4:114970431-114970431	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1753T>C; p.W585R; 4:114852788-114852788	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.23G>A; p.R8Q; 4:115077014-115077014	pancreas	carcinoma	Substitution - Missense
c.1993_1994insT; p.E665fs*5; 4:114845944-114845945	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.151G>C; p.E51Q; 4:115076886-115076886	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.747C>A; p.S249R; 4:115076290-115076290	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1628G>A; p.W543*; 4:114870859-114870859	skin	malignant_melanoma	Substitution - Nonsense
c.1214T>C; p.F405S; 4:114970437-114970437	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1114G>A; p.D372N; 4:114970537-114970537	skin	malignant_melanoma	Substitution - Missense
c.2366C>A; p.T789K; 4:114833636-114833636	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2199C>G; p.D733E; 4:114839465-114839465	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1336A>G; p.T446A; 4:114937389-114937389	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2575C>A; p.P859T; 4:114827860-114827860	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.652G>A; p.E218K; 4:115076385-115076385	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1132C>T; p.P378S; 4:114970519-114970519	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1720-8T>C; p.?; 4:114852829-114852829	pancreas	carcinoma	Unknown
c.825G>C; p.L275F; 4:115076212-115076212	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2578C>A; p.L860M; 4:114827857-114827857	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.550C>G; p.L184V; 4:115076487-115076487	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.34C>T; p.R12*; 4:115077003-115077003	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.34C>T; p.R12*; 4:115077003-115077003	skin	malignant_melanoma	Substitution - Nonsense
c.34C>T; p.R12*; 4:115077003-115077003	endometrium	carcinoma; serous_carcinoma	Substitution - Nonsense
c.34C>T; p.R12*; 4:115077003-115077003	skin	malignant_melanoma	Substitution - Nonsense
c.34C>T; p.R12*; 4:115077003-115077003	skin	malignant_melanoma	Substitution - Nonsense
c.34C>T; p.R12*; 4:115077003-115077003	skin	malignant_melanoma	Substitution - Nonsense
c.1931G>A; p.G644E; 4:114848224-114848224	skin	malignant_melanoma	Substitution - Missense
c.1931G>A; p.G644E; 4:114848224-114848224	skin	malignant_melanoma	Substitution - Missense
c.2251A>C; p.I751L; 4:114839413-114839413	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.986T>C; p.L329P; 4:114977267-114977267	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2251A>C; p.I751L; 4:114839413-114839413	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1931G>A; p.G644E; 4:114848224-114848224	skin	malignant_melanoma	Substitution - Missense
c.427G>A; p.D143N; 4:115076610-115076610	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.671A>G; p.Q224R; 4:115076366-115076366	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1740A>G; p.R580R; 4:114852801-114852801	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1467A>C; p.P489P; 4:114935275-114935275	skin	malignant_melanoma	Substitution - coding silent
c.1465C>T; p.P489S; 4:114935277-114935277	liver	carcinoma	Substitution - Missense
c.1174G>A; p.E392K; 4:114970477-114970477	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.459C>A; p.Y153*; 4:115076578-115076578	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1465C>T; p.P489S; 4:114935277-114935277	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1465C>T; p.P489S; 4:114935277-114935277	liver	carcinoma	Substitution - Missense
c.1782A>G; p.L594L; 4:114852759-114852759	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1458A>C; p.K486N; 4:114935284-114935284	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.633G>C; p.E211D; 4:115076404-115076404	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1621C>T; p.Q541*; 4:114870866-114870866	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.815G>A; p.G272D; 4:115076222-115076222	skin; extremity	malignant_melanoma	Substitution - Missense
c.442G>A; p.E148K; 4:115076595-115076595	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.806T>C; p.V269A; 4:115076231-115076231	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1817-1G>A; p.?; 4:114848339-114848339	skin	malignant_melanoma	Unknown
c.2170A>T; p.I724F; 4:114839494-114839494	skin	malignant_melanoma	Substitution - Missense
c.2533C>A; p.H845N; 4:114827902-114827902	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.550C>T; p.L184F; 4:115076487-115076487	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1118A>C; p.E373A; 4:114970533-114970533	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1408-1G>T; p.?; 4:114935335-114935335	lung	carcinoma; adenocarcinoma	Unknown
c.1803T>C; p.G601G; 4:114852738-114852738	liver	carcinoma	Substitution - coding silent
c.1239C>G; p.I413M; 4:114937486-114937486	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1803T>C; p.G601G; 4:114852738-114852738	liver	carcinoma	Substitution - coding silent
c.2047C>G; p.L683V; 4:114845891-114845891	prostate	carcinoma	Substitution - Missense
c.244C>T; p.L82F; 4:115076793-115076793	skin	malignant_melanoma	Substitution - Missense
c.244C>T; p.L82F; 4:115076793-115076793	skin	malignant_melanoma	Substitution - Missense
c.2030C>T; p.P677L; 4:114845908-114845908	skin	malignant_melanoma	Substitution - Missense
c.1638G>A; p.L546L; 4:114870849-114870849	skin	malignant_melanoma	Substitution - coding silent
c.2514C>T; p.L838L; 4:114827921-114827921	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1826C>T; p.A609V; 4:114848329-114848329	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2137C>T; p.P713S; 4:114839527-114839527	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1417C>T; p.R473*; 4:114935325-114935325	skin	malignant_melanoma	Substitution - Nonsense
c.1417C>T; p.R473*; 4:114935325-114935325	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.646C>T; p.P216S; 4:115076391-115076391	skin	malignant_melanoma	Substitution - Missense
c.1738C>T; p.R580*; 4:114852803-114852803	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1421A>G; p.Q474R; 4:114935321-114935321	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1757C>T; p.S586F; 4:114852784-114852784	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.542C>T; p.P181L; 4:115076495-115076495	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2528G>A; p.R843Q; 4:114827907-114827907	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1747G>A; p.D583N; 4:114852794-114852794	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.949G>C; p.G317R; 4:115076088-115076088	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1411C>T; p.L471F; 4:114935331-114935331	skin	malignant_melanoma	Substitution - Missense
c.560A>C; p.N187T; 4:115076477-115076477	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2371C>T; p.R791C; 4:114833631-114833631	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2371C>T; p.R791C; 4:114833631-114833631	skin	malignant_melanoma	Substitution - Missense
c.292A>G; p.I98V; 4:115076745-115076745	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1275G>T; p.G425G; 4:114937450-114937450	liver	carcinoma	Substitution - coding silent
c.528A>G; p.Q176Q; 4:115076509-115076509	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1078G>T; p.E360*; 4:114970573-114970573	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.338G>A; p.G113E; 4:115076699-115076699	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.338G>A; p.G113E; 4:115076699-115076699	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1525C>T; p.L509F; 4:114935217-114935217	skin; axilla	malignant_melanoma	Substitution - Missense
c.466G>A; p.E156K; 4:115076571-115076571	skin	malignant_melanoma	Substitution - Missense
c.431C>A; p.S144*; 4:115076606-115076606	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1586G>T; p.G529V; 4:114870901-114870901	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2123G>T; p.R708L; 4:114839541-114839541	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1288C>T; p.H430Y; 4:114937437-114937437	skin	malignant_melanoma	Substitution - Missense
c.1106G>A; p.R369Q; 4:114970545-114970545	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1488T>C; p.D496D; 4:114935254-114935254	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.465G>A; p.V155V; 4:115076572-115076572	skin	malignant_melanoma	Substitution - coding silent
c.962A>T; p.N321I; 4:115076075-115076075	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.651G>A; p.G217G; 4:115076386-115076386	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1991T>A; p.F664Y; 4:114845947-114845947	liver	carcinoma	Substitution - Missense
c.1991T>A; p.F664Y; 4:114845947-114845947	liver	carcinoma	Substitution - Missense
c.2363T>C; p.V788A; 4:114833639-114833639	skin	malignant_melanoma	Substitution - Missense
c.70G>A; p.V24M; 4:115076967-115076967	stomach	adenocarcinoma	Substitution - Missense
c.1592A>G; p.Y531C; 4:114870895-114870895	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2497G>C; p.E833Q; 4:114829792-114829792	urinary_tract; bladder	carcinoma	Substitution - Missense
c.464T>A; p.V155E; 4:115076573-115076573	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2278A>G; p.T760A; 4:114839386-114839386	kidney	other; neoplasm	Substitution - Missense
c.21T>A; p.L7L; 4:115077016-115077016	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.450A>C; p.L150F; 4:115076587-115076587	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1066+3A>G; p.?; 4:114977184-114977184	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2266A>C; p.T756P; 4:114839398-114839398	prostate	carcinoma	Substitution - Missense
c.1067G>A; p.G356E; 4:114970584-114970584	skin	malignant_melanoma	Substitution - Missense
c.2463A>T; p.K821N; 4:114829826-114829826	skin	malignant_melanoma	Substitution - Missense
c.715C>A; p.Q239K; 4:115076322-115076322	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1437C>A; p.F479L; 4:114935305-114935305	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2495C>A; p.P832Q; 4:114829794-114829794	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1354C>G; p.P452A; 4:114937371-114937371	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1491A>C; p.K497N; 4:114935251-114935251	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1024T>G; p.F342V; 4:114977229-114977229	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.949G>A; p.G317R; 4:115076088-115076088	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.190G>T; p.E64*; 4:115076847-115076847	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.624C>A; p.P208P; 4:115076413-115076413	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1422G>A; p.Q474Q; 4:114935320-114935320	skin	malignant_melanoma	Substitution - coding silent
c.1354C>T; p.P452S; 4:114937371-114937371	skin	malignant_melanoma	Substitution - Missense
c.1321T>A; p.W441R; 4:114937404-114937404	skin	malignant_melanoma	Substitution - Missense
c.40T>A; p.L14M; 4:115076997-115076997	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.728C>T; p.S243F; 4:115076309-115076309	skin	malignant_melanoma	Substitution - Missense
c.728C>T; p.S243F; 4:115076309-115076309	skin	malignant_melanoma	Substitution - Missense
c.2302G>A; p.G768R; 4:114833700-114833700	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.637G>A; p.G213S; 4:115076400-115076400	skin	malignant_melanoma	Substitution - Missense
c.1510C>G; p.L504V; 4:114935232-114935232	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1710T>C; p.P570P; 4:114870777-114870777	breast	carcinoma	Substitution - coding silent
c.1325G>A; p.G442D; 4:114937400-114937400	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2123G>A; p.R708Q; 4:114839541-114839541	skin	malignant_melanoma	Substitution - Missense
c.228G>A; p.T76T; 4:115076809-115076809	skin	malignant_melanoma	Substitution - coding silent
c.228G>A; p.T76T; 4:115076809-115076809	skin	malignant_melanoma	Substitution - coding silent
c.1815A>G; p.T605T; 4:114852726-114852726	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.935T>C; p.F312S; 4:115076102-115076102	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2090C>T; p.S697L; 4:114845848-114845848	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1145G>A; p.S382N; 4:114970506-114970506	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2488A>G; p.M830V; 4:114829801-114829801	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1258G>A; p.A420T; 4:114937467-114937467	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1939T>G; p.W647G; 4:114848216-114848216	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2237G>A; p.W746*; 4:114839427-114839427	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.473G>T; p.S158I; 4:115076564-115076564	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2237G>A; p.W746*; 4:114839427-114839427	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.1355C>T; p.P452L; 4:114937370-114937370	skin	malignant_melanoma	Substitution - Missense
c.308G>T; p.R103L; 4:115076729-115076729	oesophagus	carcinoma	Substitution - Missense
c.2029C>T; p.P677S; 4:114845909-114845909	skin	malignant_melanoma	Substitution - Missense
c.308G>A; p.R103Q; 4:115076729-115076729	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.308G>A; p.R103Q; 4:115076729-115076729	skin	malignant_melanoma	Substitution - Missense
c.1978A>G; p.S660G; 4:114845960-114845960	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.308G>A; p.R103Q; 4:115076729-115076729	meninges	meningioma	Substitution - Missense
c.1814C>G; p.T605R; 4:114852727-114852727	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1720A>C; p.N574H; 4:114852821-114852821	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2385T>A; p.S795S; 4:114833617-114833617	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2026G>T; p.A676S; 4:114845912-114845912	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.217A>C; p.T73P; 4:115076820-115076820	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1420C>A; p.Q474K; 4:114935322-114935322	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.167A>C; p.K56T; 4:115076870-115076870	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.624delC; p.K209fs*27; 4:115076413-115076413	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1248C>T; p.G416G; 4:114937477-114937477	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1571G>C; p.G524A; 4:114870916-114870916	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1447A>G; p.I483V; 4:114935295-114935295	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.669C>A; p.F223L; 4:115076368-115076368	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2117A>T; p.H706L; 4:114839547-114839547	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.245T>A; p.L82H; 4:115076792-115076792	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1155G>A; p.Q385Q; 4:114970496-114970496	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.51C>T; p.L17L; 4:115076986-115076986	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.877G>C; p.G293R; 4:115076160-115076160	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.56C>A; p.A19D; 4:115076981-115076981	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.440G>A; p.R147Q; 4:115076597-115076597	prostate	carcinoma	Substitution - Missense
c.814G>A; p.G272S; 4:115076223-115076223	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1372C>A; p.R458R; 4:114937353-114937353	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1359T>C; p.H453H; 4:114937366-114937366	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1040G>A; p.G347E; 4:114977213-114977213	thyroid	carcinoma	Substitution - Missense
c.2521T>A; p.Y841N; 4:114827914-114827914	prostate	carcinoma	Substitution - Missense
c.1809A>G; p.Q603Q; 4:114852732-114852732	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.952A>G; p.T318A; 4:115076085-115076085	skin	malignant_melanoma	Substitution - Missense
c.241C>T; p.L81F; 4:115076796-115076796	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.919G>C; p.D307H; 4:115076118-115076118	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2423G>T; p.C808F; 4:114829866-114829866	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2391A>G; p.A797A; 4:114833611-114833611	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.476T>C; p.V159A; 4:115076561-115076561	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.40T>C; p.L14L; 4:115076997-115076997	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.337G>C; p.G113R; 4:115076700-115076700	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1078G>A; p.E360K; 4:114970573-114970573	skin	malignant_melanoma	Substitution - Missense
c.1413C>T; p.L471L; 4:114935329-114935329	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.729C>T; p.S243S; 4:115076308-115076308	bone; rib	chondrosarcoma	Substitution - coding silent
c.273C>T; p.L91L; 4:115076764-115076764	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1562C>T; p.S521L; 4:114870925-114870925	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.486C>T; p.I162I; 4:115076551-115076551	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2078T>C; p.L693P; 4:114845860-114845860	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.399T>C; p.Y133Y; 4:115076638-115076638	kidney	other; neoplasm	Substitution - coding silent
c.1448T>G; p.I483S; 4:114935294-114935294	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1242C>G; p.N414K; 4:114937483-114937483	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.513C>A; p.S171R; 4:115076524-115076524	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1389C>A; p.F463L; 4:114937336-114937336	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.372_373CA>AG; p.K125E; 4:115076664-115076665	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2248C>A; p.H750N; 4:114839416-114839416	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2088C>T; p.P696P; 4:114845850-114845850	skin	malignant_melanoma	Substitution - coding silent
c.1274G>A; p.G425E; 4:114937451-114937451	liver	carcinoma	Substitution - Missense
c.188T>C; p.M63T; 4:115076849-115076849	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.737C>T; p.S246F; 4:115076300-115076300	skin	malignant_melanoma	Substitution - Missense
c.737C>T; p.S246F; 4:115076300-115076300	skin	malignant_melanoma	Substitution - Missense
c.1940+2T>G; p.?; 4:114848213-114848213	skin	malignant_melanoma	Unknown
c.630T>C; p.V210V; 4:115076407-115076407	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1501G>A; p.G501R; 4:114935241-114935241	skin; back	malignant_melanoma	Substitution - Missense
c.143C>A; p.A48E; 4:115076894-115076894	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.598C>T; p.P200S; 4:115076439-115076439	skin	malignant_melanoma	Substitution - Missense
c.3G>A; p.M1I; 4:115077034-115077034	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.598C>T; p.P200S; 4:115076439-115076439	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.85T>C; p.S29P; 4:115076952-115076952	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2471G>T; p.G824V; 4:114829818-114829818	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2494C>T; p.P832S; 4:114829795-114829795	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.408T>G; p.I136M; 4:115076629-115076629	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1905C>A; p.F635L; 4:114848250-114848250	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1905C>A; p.F635L; 4:114848250-114848250	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1905C>A; p.F635L; 4:114848250-114848250	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.22C>T; p.R8W; 4:115077015-115077015	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.572A>G; p.K191R; 4:115076465-115076465	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2320G>C; p.D774H; 4:114833682-114833682	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2338G>A; p.D780N; 4:114833664-114833664	skin	malignant_melanoma	Substitution - Missense
c.2338G>A; p.D780N; 4:114833664-114833664	skin	malignant_melanoma	Substitution - Missense
c.1505G>T; p.G502V; 4:114935237-114935237	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2338G>A; p.D780N; 4:114833664-114833664	skin	malignant_melanoma	Substitution - Missense
c.2048T>C; p.L683P; 4:114845890-114845890	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.15G>A; p.V5V; 4:115077022-115077022	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2054C>T; p.P685L; 4:114845884-114845884	skin	malignant_melanoma	Substitution - Missense
c.2054C>T; p.P685L; 4:114845884-114845884	skin	malignant_melanoma	Substitution - Missense
c.1343C>T; p.T448I; 4:114937382-114937382	skin; trunk	malignant_melanoma	Substitution - Missense
c.856G>C; p.D286H; 4:115076181-115076181	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2441G>A; p.G814E; 4:114829848-114829848	skin	malignant_melanoma	Substitution - Missense
c.2441G>A; p.G814E; 4:114829848-114829848	skin; mucosal	malignant_melanoma	Substitution - Missense
c.253G>A; p.E85K; 4:115076784-115076784	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1643T>A; p.L548*; 4:114870844-114870844	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2041G>A; p.A681T; 4:114845897-114845897	pancreas	carcinoma	Substitution - Missense
c.192G>A; p.E64E; 4:115076845-115076845	thyroid	carcinoma	Substitution - coding silent
c.2337G>A; p.M779I; 4:114833665-114833665	skin	malignant_melanoma	Substitution - Missense
c.190G>A; p.E64K; 4:115076847-115076847	skin	malignant_melanoma	Substitution - Missense
c.1096C>A; p.L366I; 4:114970555-114970555	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.190G>A; p.E64K; 4:115076847-115076847	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.756delC; p.F253fs*4; 4:115076281-115076281	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.925G>C; p.D309H; 4:115076112-115076112	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.238G>T; p.V80F; 4:115076799-115076799	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2059G>A; p.A687T; 4:114845879-114845879	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2499+1G>A; p.?; 4:114829789-114829789	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.925G>C; p.D309H; 4:115076112-115076112	urinary_tract; bladder	carcinoma	Substitution - Missense
c.632A>C; p.E211A; 4:115076405-115076405	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1635C>T; p.N545N; 4:114870852-114870852	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.75C>T; p.S25S; 4:115076962-115076962	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.695C>T; p.P232L; 4:115076342-115076342	skin	malignant_melanoma	Substitution - Missense
c.913C>T; p.L305F; 4:115076124-115076124	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.825G>A; p.L275L; 4:115076212-115076212	skin	malignant_melanoma	Substitution - coding silent
c.1210G>A; p.E404K; 4:114970441-114970441	skin	malignant_melanoma	Substitution - Missense
c.913C>T; p.L305F; 4:115076124-115076124	skin	malignant_melanoma	Substitution - Missense
c.2397-9G>A; p.?; 4:114829901-114829901	liver	carcinoma	Unknown
c.825G>A; p.L275L; 4:115076212-115076212	skin	malignant_melanoma	Substitution - coding silent
c.2226A>G; p.L742L; 4:114839438-114839438	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2372G>C; p.R791P; 4:114833630-114833630	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.333C>T; p.A111A; 4:115076704-115076704	skin	malignant_melanoma	Substitution - coding silent
c.2293A>C; p.I765L; 4:114833709-114833709	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.110A>T; p.Y37F; 4:115076927-115076927	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1161C>A; p.H387Q; 4:114970490-114970490	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1400G>C; p.S467T; 4:114937325-114937325	skin	malignant_melanoma	Substitution - Missense
c.285C>T; p.I95I; 4:115076752-115076752	skin	malignant_melanoma	Substitution - coding silent
c.1502G>A; p.G501E; 4:114935240-114935240	skin; back	malignant_melanoma	Substitution - Missense
c.1502G>A; p.G501E; 4:114935240-114935240	skin	malignant_melanoma	Substitution - Missense
c.951A>G; p.G317G; 4:115076086-115076086	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1826C>G; p.A609G; 4:114848329-114848329	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.951A>G; p.G317G; 4:115076086-115076086	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1173C>T; p.N391N; 4:114970478-114970478	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.951A>G; p.G317G; 4:115076086-115076086	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2019G>A; p.S673S; 4:114845919-114845919	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2072C>A; p.T691N; 4:114845866-114845866	bone	osteosarcoma	Substitution - Missense
c.2341G>A; p.E781K; 4:114833661-114833661	skin	malignant_melanoma	Substitution - Missense
c.756C>A; p.L252L; 4:115076281-115076281	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2525A>C; p.Y842S; 4:114827910-114827910	prostate	carcinoma	Substitution - Missense
c.1451T>C; p.F484S; 4:114935291-114935291	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.714A>G; p.L238L; 4:115076323-115076323	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2586G>A; p.S862S; 4:114827849-114827849	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1105C>T; p.R369W; 4:114970546-114970546	liver	carcinoma	Substitution - Missense
c.1105C>T; p.R369W; 4:114970546-114970546	liver	carcinoma	Substitution - Missense
c.1105C>T; p.R369W; 4:114970546-114970546	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1373G>A; p.R458Q; 4:114937352-114937352	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2393T>C; p.L798P; 4:114833609-114833609	skin	malignant_melanoma	Substitution - Missense
c.180T>C; p.Y60Y; 4:115076857-115076857	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1611C>G; p.V537V; 4:114870876-114870876	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1635C>A; p.N545K; 4:114870852-114870852	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1404C>T; p.I468I; 4:114937321-114937321	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1090G>A; p.D364N; 4:114970561-114970561	skin	malignant_melanoma	Substitution - Missense
c.655G>A; p.D219N; 4:115076382-115076382	skin; extremity	malignant_melanoma	Substitution - Missense
c.950G>T; p.G317V; 4:115076087-115076087	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.110A>G; p.Y37C; 4:115076927-115076927	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1840C>T; p.L614F; 4:114848315-114848315	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.970G>T; p.D324Y; 4:115076067-115076067	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.801G>T; p.Q267H; 4:115076236-115076236	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.978+1G>T; p.?; 4:115076058-115076058	lung	carcinoma; adenocarcinoma	Unknown
c.345A>G; p.G115G; 4:115076692-115076692	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1052A>C; p.K351T; 4:114977201-114977201	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1813_1814insA; p.T605fs*22; 4:114852727-114852728	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1414C>T; p.P472S; 4:114935328-114935328	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1825G>A; p.A609T; 4:114848330-114848330	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2330C>T; p.T777I; 4:114833672-114833672	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1389C>T; p.F463F; 4:114937336-114937336	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2105C>G; p.S702C; 4:114845833-114845833	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1052A>C; p.K351T; 4:114977201-114977201	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1414C>T; p.P472S; 4:114935328-114935328	skin	malignant_melanoma	Substitution - Missense
c.1813_1814insA; p.T605fs*22; 4:114852727-114852728	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1885A>G; p.T629A; 4:114848270-114848270	liver	carcinoma	Substitution - Missense
c.690C>T; p.Y230Y; 4:115076347-115076347	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2469A>T; p.K823N; 4:114829820-114829820	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1792C>A; p.L598I; 4:114852749-114852749	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1794A>T; p.L598L; 4:114852747-114852747	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.309A>C; p.R103R; 4:115076728-115076728	breast	carcinoma	Substitution - coding silent
c.1950C>A; p.D650E; 4:114845988-114845988	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1595C>G; p.T532S; 4:114870892-114870892	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1595C>G; p.T532S; 4:114870892-114870892	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1086_1094delAGGAGATGA; p.E362_D364delEGD; 4:114970557-114970565	skin	malignant_melanoma	Deletion - In frame
c.439C>T; p.R147*; 4:115076598-115076598	NS	malignant_melanoma	Substitution - Nonsense
c.1339A>T; p.S447C; 4:114937386-114937386	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.787C>T; p.H263Y; 4:115076250-115076250	skin	malignant_melanoma	Substitution - Missense
c.1445C>T; p.T482I; 4:114935297-114935297	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.2051T>G; p.V684G; 4:114845887-114845887	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.2276C>A; p.A759D; 4:114839388-114839388	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1315_1317delAAG; p.K439delK; 4:114937408-114937410	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - In frame
c.376G>T; p.G126W; 4:115076661-115076661	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1118A>T; p.E373V; 4:114970533-114970533	prostate	carcinoma	Substitution - Missense
c.1108_1109TC>AT; p.S370I; 4:114970542-114970543	skin	malignant_melanoma	Substitution - Missense
c.1118A>T; p.E373V; 4:114970533-114970533	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.298G>A; p.E100K; 4:115076739-115076739	kidney	carcinoma; clear_cell_renal_cell_carcinoma	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]