Entrez Gene

Basic Information
Gene ID	6331
Name	SCN5A
Synonymous	sodium channel, voltage gated, type V alpha subunit;SCN5A;sodium channel, voltage gated, type V alpha subunit
Definition	cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit\|sodium channel protein cardiac muscle subunit alpha\|sodium channel protein type 5 subunit alpha\|sodium channel, voltage-gated, type V, alpha subunit\|voltage-gated sodium chann
Position	3p21
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.3947G>A; p.R1316Q; 3:38562431-38562431	skin	malignant_melanoma	Substitution - Missense
c.4094A>G; p.N1365S; 3:38560298-38560298	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3947G>A; p.R1316Q; 3:38562431-38562431	skin	malignant_melanoma	Substitution - Missense
c.306C>T; p.I102I; 3:38630397-38630397	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4886G>A; p.R1629Q; 3:38551486-38551486	skin	malignant_melanoma	Substitution - Missense
c.3804C>G; p.T1268T; 3:38566445-38566445	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3472G>A; p.G1158S; 3:38576700-38576700	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.84G>A; p.M28I; 3:38633224-38633224	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4886G>A; p.R1629Q; 3:38551486-38551486	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5231G>A; p.S1744N; 3:38551141-38551141	skin	malignant_melanoma	Substitution - Missense
c.1018C>T; p.R340W; 3:38606791-38606791	skin	malignant_melanoma	Substitution - Missense
c.1014C>T; p.G338G; 3:38606795-38606795	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5590G>A; p.E1864K; 3:38550782-38550782	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.684A>C; p.K228N; 3:38613762-38613762	oesophagus	carcinoma	Substitution - Missense
c.998+1G>A; p.?; 3:38608150-38608150	urinary_tract; bladder	carcinoma	Unknown
c.5475C>T; p.L1825L; 3:38550897-38550897	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5475C>T; p.L1825L; 3:38550897-38550897	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2762T>C; p.L921P; 3:38585716-38585716	liver	carcinoma	Substitution - Missense
c.2762T>C; p.L921P; 3:38585716-38585716	liver	carcinoma	Substitution - Missense
c.5590G>A; p.E1864K; 3:38550782-38550782	skin	malignant_melanoma	Substitution - Missense
c.435C>T; p.C145C; 3:38622447-38622447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2607G>A; p.R869R; 3:38585871-38585871	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6024G>A; p.P2008P; 3:38550348-38550348	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - coding silent
c.127C>T; p.R43*; 3:38633181-38633181	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1943C>T; p.P648L; 3:38598998-38598998	pancreas	carcinoma	Substitution - Missense
c.784A>G; p.S262G; 3:38609884-38609884	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5796G>T; p.A1932A; 3:38550576-38550576	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.5528T>G; p.V1843G; 3:38550844-38550844	breast	carcinoma	Substitution - Missense
c.5528T>G; p.V1843G; 3:38550844-38550844	breast	carcinoma	Substitution - Missense
c.3254G>A; p.G1085D; 3:38579470-38579470	ovary	other; neoplasm	Substitution - Missense
c.5476C>T; p.R1826C; 3:38550896-38550896	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3364G>A; p.E1122K; 3:38579360-38579360	skin	malignant_melanoma	Substitution - Missense
c.3998C>A; p.S1333Y; 3:38560394-38560394	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5436G>A; p.S1812S; 3:38550936-38550936	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4428G>C; p.Q1476H; 3:38556450-38556450	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5082C>T; p.F1694F; 3:38551290-38551290	skin; neck	malignant_melanoma	Substitution - coding silent
c.5573C>A; p.T1858N; 3:38550799-38550799	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.3051G>A; p.E1017E; 3:38581108-38581108	skin	malignant_melanoma	Substitution - coding silent
c.5129C>T; p.S1710L; 3:38551243-38551243	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3520C>T; p.R1174W; 3:38575443-38575443	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.826C>T; p.L276L; 3:38609842-38609842	skin	malignant_melanoma	Substitution - coding silent
c.1591A>C; p.T531P; 3:38604011-38604011	breast	carcinoma	Substitution - Missense
c.2322C>A; p.Y774*; 3:38587514-38587514	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4172G>C; p.G1391A; 3:38560220-38560220	pancreas	carcinoma	Substitution - Missense
c.3206C>T; p.T1069M; 3:38580953-38580953	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3206C>T; p.T1069M; 3:38580953-38580953	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.958A>G; p.T320A; 3:38608191-38608191	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6046G>A; p.V2016M; 3:38550326-38550326	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4661C>T; p.P1554L; 3:38554431-38554431	skin	malignant_melanoma	Substitution - Missense
c.5883C>T; p.G1961G; 3:38550489-38550489	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1009G>A; p.E337K; 3:38606800-38606800	skin	malignant_melanoma	Substitution - Missense
c.1009G>A; p.E337K; 3:38606800-38606800	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2924G>A; p.R975Q; 3:38581235-38581235	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5883C>T; p.G1961G; 3:38550489-38550489	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1454G>A; p.G485E; 3:38604793-38604793	skin	malignant_melanoma	Substitution - Missense
c.3073G>A; p.E1025K; 3:38581086-38581086	skin	malignant_melanoma	Substitution - Missense
c.5272A>G; p.I1758V; 3:38551100-38551100	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3232G>A; p.E1078K; 3:38579492-38579492	skin	malignant_melanoma	Substitution - Missense
c.3232G>A; p.E1078K; 3:38579492-38579492	skin	malignant_melanoma	Substitution - Missense
c.3073G>A; p.E1025K; 3:38581086-38581086	skin	malignant_melanoma	Substitution - Missense
c.4073G>A; p.G1358E; 3:38560319-38560319	skin	malignant_melanoma	Substitution - Missense
c.2700C>T; p.I900I; 3:38585778-38585778	skin	malignant_melanoma	Substitution - coding silent
c.1902G>A; p.S634S; 3:38599039-38599039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2700C>T; p.I900I; 3:38585778-38585778	skin	malignant_melanoma	Substitution - coding silent
c.4012C>A; p.L1338I; 3:38560380-38560380	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2462C>T; p.S821L; 3:38586016-38586016	skin	malignant_melanoma	Substitution - Missense
c.2254G>A; p.G752R; 3:38597737-38597737	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5701G>A; p.E1901K; 3:38550671-38550671	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2944T>C; p.C982R; 3:38581215-38581215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5701G>A; p.E1901K; 3:38550671-38550671	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1677A>G; p.T559T; 3:38603925-38603925	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3908G>A; p.R1303Q; 3:38562470-38562470	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.864C>T; p.N288N; 3:38609804-38609804	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4556G>A; p.G1519D; 3:38554536-38554536	skin	malignant_melanoma	Substitution - Missense
c.1170G>A; p.M390I; 3:38606119-38606119	skin	malignant_melanoma	Substitution - Missense
c.1170G>A; p.M390I; 3:38606119-38606119	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1170G>A; p.M390I; 3:38606119-38606119	skin	malignant_melanoma	Substitution - Missense
c.1734C>T; p.P578P; 3:38603868-38603868	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5862G>T; p.E1954D; 3:38550510-38550510	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1225C>T; p.L409L; 3:38606064-38606064	skin	malignant_melanoma	Substitution - coding silent
c.4428G>A; p.Q1476Q; 3:38556450-38556450	skin	malignant_melanoma	Substitution - coding silent
c.5786G>A; p.R1929H; 3:38550586-38550586	pancreas	carcinoma	Substitution - Missense
c.5786G>A; p.R1929H; 3:38550586-38550586	pancreas	carcinoma	Substitution - Missense
c.4428G>A; p.Q1476Q; 3:38556450-38556450	skin	malignant_melanoma	Substitution - coding silent
c.5786G>A; p.R1929H; 3:38550586-38550586	prostate	carcinoma	Substitution - Missense
c.5786G>A; p.R1929H; 3:38550586-38550586	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1834A>G; p.T612A; 3:38603768-38603768	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5786G>A; p.R1929H; 3:38550586-38550586	pancreas	carcinoma	Substitution - Missense
c.3675G>A; p.E1225E; 3:38566574-38566574	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3577C>T; p.R1193W; 3:38575386-38575386	pancreas	NS	Substitution - Missense
c.240G>A; p.L80L; 3:38633068-38633068	skin	malignant_melanoma	Substitution - coding silent
c.956G>A; p.G319D; 3:38608193-38608193	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5803G>A; p.G1935S; 3:38550569-38550569	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3577C>T; p.R1193W; 3:38575386-38575386	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3241C>G; p.P1081A; 3:38579483-38579483	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3987C>T; p.G1329G; 3:38560405-38560405	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3987C>T; p.G1329G; 3:38560405-38560405	pancreas	carcinoma	Substitution - coding silent
c.3577C>T; p.R1193W; 3:38575386-38575386	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5028G>A; p.M1676I; 3:38551344-38551344	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2039G>A; p.R680H; 3:38597952-38597952	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1854C>T; p.L618L; 3:38603748-38603748	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.26G>T; p.G9V; 3:38633282-38633282	liver	carcinoma	Substitution - Missense
c.5239G>A; p.V1747M; 3:38551133-38551133	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.26G>T; p.G9V; 3:38633282-38633282	liver	carcinoma	Substitution - Missense
c.822C>A; p.G274G; 3:38609846-38609846	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1298G>A; p.R433H; 3:38605991-38605991	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3207G>A; p.T1069T; 3:38580952-38580952	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5239G>A; p.V1747M; 3:38551133-38551133	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5348C>T; p.T1783I; 3:38551024-38551024	skin	malignant_melanoma	Substitution - Missense
c.12C>T; p.F4F; 3:38633296-38633296	skin	malignant_melanoma	Substitution - coding silent
c.1579G>A; p.G527R; 3:38604023-38604023	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5566G>A; p.A1856T; 3:38550806-38550806	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.481G>A; p.E161K; 3:38622401-38622401	skin	malignant_melanoma	Substitution - Missense
c.12C>T; p.F4F; 3:38633296-38633296	skin	malignant_melanoma	Substitution - coding silent
c.1579G>A; p.G527R; 3:38604023-38604023	kidney	other; neoplasm	Substitution - Missense
c.5646C>A; p.A1882A; 3:38550726-38550726	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3553C>A; p.Q1185K; 3:38575410-38575410	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.320C>T; p.A107V; 3:38630383-38630383	skin	malignant_melanoma	Substitution - Missense
c.1488G>T; p.K496N; 3:38604759-38604759	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2184A>G; p.V728V; 3:38597807-38597807	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.5454C>T; p.A1818A; 3:38550918-38550918	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.878C>T; p.S293F; 3:38609790-38609790	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5350G>A; p.E1784K; 3:38551022-38551022	skin	malignant_melanoma	Substitution - Missense
c.5350G>A; p.E1784K; 3:38551022-38551022	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4564T>A; p.F1522I; 3:38554528-38554528	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2423G>A; p.R808H; 3:38587413-38587413	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3271G>A; p.D1091N; 3:38579453-38579453	skin	malignant_melanoma	Substitution - Missense
c.2423G>A; p.R808H; 3:38587413-38587413	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5971C>T; p.R1991W; 3:38550401-38550401	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4018G>A; p.V1340I; 3:38560374-38560374	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5338G>A; p.E1780K; 3:38551034-38551034	skin	malignant_melanoma	Substitution - Missense
c.5338G>A; p.E1780K; 3:38551034-38551034	skin	malignant_melanoma	Substitution - Missense
c.2963G>A; p.R988Q; 3:38581196-38581196	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3242C>T; p.P1081L; 3:38579482-38579482	skin	malignant_melanoma	Substitution - Missense
c.5371T>G; p.F1791V; 3:38551001-38551001	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5971C>T; p.R1991W; 3:38550401-38550401	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2547C>T; p.I849I; 3:38585931-38585931	skin	malignant_melanoma	Substitution - coding silent
c.4396A>T; p.I1466F; 3:38556482-38556482	ovary	other; neoplasm	Substitution - Missense
c.2547C>T; p.I849I; 3:38585931-38585931	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5373C>T; p.F1791F; 3:38550999-38550999	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3673G>A; p.E1225K; 3:38566576-38566576	oesophagus	carcinoma	Substitution - Missense
c.5373C>T; p.F1791F; 3:38550999-38550999	skin	malignant_melanoma	Substitution - coding silent
c.2994G>C; p.Q998H; 3:38581165-38581165	urinary_tract; bladder	carcinoma	Substitution - Missense
c.328G>A; p.A110T; 3:38630375-38630375	pancreas	carcinoma	Substitution - Missense
c.328G>A; p.A110T; 3:38630375-38630375	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3072G>A; p.K1024K; 3:38581087-38581087	skin	malignant_melanoma	Substitution - coding silent
c.155C>T; p.P52L; 3:38633153-38633153	skin	malignant_melanoma	Substitution - Missense
c.4908G>A; p.L1636L; 3:38551464-38551464	skin	malignant_melanoma	Substitution - coding silent
c.2814G>A; p.L938L; 3:38581345-38581345	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.909C>T; p.S303S; 3:38609759-38609759	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.873C>T; p.N291N; 3:38609795-38609795	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.681delG; p.T229fs*8; 3:38613765-38613765	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1109C>T; p.T370M; 3:38606700-38606700	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1745C>A; p.A582D; 3:38603857-38603857	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3357G>A; p.W1119*; 3:38579367-38579367	skin	malignant_melanoma	Substitution - Nonsense
c.2575C>A; p.Q859K; 3:38585903-38585903	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4056C>T; p.G1352G; 3:38560336-38560336	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4969C>A; p.L1657I; 3:38551403-38551403	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5393G>A; p.W1798*; 3:38550979-38550979	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1081G>A; p.A361T; 3:38606728-38606728	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3500G>T; p.C1167F; 3:38576672-38576672	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2138T>C; p.V713A; 3:38597853-38597853	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1100G>A; p.R367H; 3:38606709-38606709	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5607C>T; p.D1869D; 3:38550765-38550765	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2614G>A; p.D872N; 3:38585864-38585864	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1334A>C; p.H445P; 3:38605955-38605955	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2949T>A; p.G983G; 3:38581210-38581210	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.237C>T; p.P79P; 3:38633071-38633071	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.5365G>T; p.D1789Y; 3:38551007-38551007	pancreas	carcinoma	Substitution - Missense
c.3188A>G; p.E1063G; 3:38580971-38580971	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.237C>T; p.P79P; 3:38633071-38633071	liver	carcinoma	Substitution - coding silent
c.1725G>A; p.Q575Q; 3:38603877-38603877	skin	malignant_melanoma	Substitution - coding silent
c.2995G>T; p.G999C; 3:38581164-38581164	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5067C>T; p.D1689D; 3:38551305-38551305	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5425A>G; p.I1809V; 3:38550947-38550947	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1929G>A; p.L643L; 3:38599012-38599012	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2071G>A; p.A691T; 3:38597920-38597920	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5067C>T; p.D1689D; 3:38551305-38551305	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3067C>T; p.R1023C; 3:38581092-38581092	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.4769G>A; p.S1590N; 3:38554323-38554323	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.327C>T; p.N109N; 3:38630376-38630376	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6023C>T; p.P2008L; 3:38550349-38550349	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4353C>A; p.V1451V; 3:38556525-38556525	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3067C>T; p.R1023C; 3:38581092-38581092	pancreas	carcinoma	Substitution - Missense
c.4855C>T; p.P1619S; 3:38551517-38551517	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.327C>T; p.N109N; 3:38630376-38630376	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.752C>A; p.A251D; 3:38609916-38609916	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1152C>T; p.S384S; 3:38606137-38606137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2368A>C; p.I790L; 3:38587468-38587468	skin	malignant_melanoma	Substitution - Missense
c.295G>A; p.G99S; 3:38630408-38630408	skin	malignant_melanoma	Substitution - Missense
c.1158G>A; p.G386G; 3:38606131-38606131	skin	malignant_melanoma	Substitution - coding silent
c.1158G>A; p.G386G; 3:38606131-38606131	skin	malignant_melanoma	Substitution - coding silent
c.1915G>T; p.G639W; 3:38599026-38599026	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2467C>A; p.P823T; 3:38586011-38586011	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1663G>A; p.E555K; 3:38603939-38603939	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1790G>C; p.C597S; 3:38603812-38603812	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3925C>A; p.R1309S; 3:38562453-38562453	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.975G>C; p.L325L; 3:38608174-38608174	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4499A>C; p.K1500T; 3:38555699-38555699	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5995G>A; p.E1999K; 3:38550377-38550377	skin	malignant_melanoma	Substitution - Missense
c.4499A>C; p.K1500T; 3:38555699-38555699	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2730G>A; p.S910S; 3:38585748-38585748	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2716T>G; p.C906G; 3:38585762-38585762	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1070C>T; p.S357F; 3:38606739-38606739	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4788C>T; p.F1596F; 3:38554304-38554304	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4788C>T; p.F1596F; 3:38554304-38554304	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4788C>T; p.F1596F; 3:38554304-38554304	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3033G>A; p.P1011P; 3:38581126-38581126	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4788C>T; p.F1596F; 3:38554304-38554304	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4788C>T; p.F1596F; 3:38554304-38554304	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4788C>T; p.F1596F; 3:38554304-38554304	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3236C>T; p.S1079F; 3:38579488-38579488	skin	malignant_melanoma	Substitution - Missense
c.3576G>A; p.W1192*; 3:38575387-38575387	liver	carcinoma	Substitution - Nonsense
c.3512G>T; p.G1171V; 3:38575451-38575451	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3891C>A; p.G1297G; 3:38562487-38562487	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4627G>A; p.V1543M; 3:38554465-38554465	prostate	carcinoma	Substitution - Missense
c.720G>A; p.V240V; 3:38609948-38609948	thyroid	carcinoma	Substitution - coding silent
c.5444C>A; p.S1815Y; 3:38550928-38550928	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3576G>A; p.W1192*; 3:38575387-38575387	liver	carcinoma	Substitution - Nonsense
c.1273G>A; p.A425T; 3:38606016-38606016	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3501C>T; p.C1167C; 3:38576671-38576671	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4151G>A; p.C1384Y; 3:38560241-38560241	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1157G>A; p.G386E; 3:38606132-38606132	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4748G>C; p.R1583P; 3:38554344-38554344	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1157G>A; p.G386E; 3:38606132-38606132	skin	malignant_melanoma	Substitution - Missense
c.2013C>T; p.S671S; 3:38598928-38598928	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2013C>T; p.S671S; 3:38598928-38598928	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4584G>A; p.Q1528Q; 3:38554508-38554508	oesophagus	carcinoma	Substitution - coding silent
c.2352C>T; p.F784F; 3:38587484-38587484	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4566C>T; p.F1522F; 3:38554526-38554526	skin	malignant_melanoma	Substitution - coding silent
c.4721A>G; p.E1574G; 3:38554371-38554371	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4809C>T; p.I1603I; 3:38554283-38554283	skin	malignant_melanoma	Substitution - coding silent
c.5713G>A; p.A1905T; 3:38550659-38550659	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4809C>T; p.I1603I; 3:38554283-38554283	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2236G>A; p.E746K; 3:38597755-38597755	skin; trunk	malignant_melanoma	Substitution - Missense
c.2070C>T; p.L690L; 3:38597921-38597921	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2352C>T; p.F784F; 3:38587484-38587484	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1434G>A; p.R478R; 3:38604813-38604813	skin	malignant_melanoma	Substitution - coding silent
c.4050C>T; p.I1350I; 3:38560342-38560342	breast	carcinoma	Substitution - coding silent
c.787G>A; p.V263I; 3:38609881-38609881	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1434G>A; p.R478R; 3:38604813-38604813	skin	malignant_melanoma	Substitution - coding silent
c.2703G>A; p.E901E; 3:38585775-38585775	breast	carcinoma	Substitution - coding silent
c.3751G>A; p.V1251M; 3:38566498-38566498	prostate	carcinoma	Substitution - Missense
c.2757C>T; p.F919F; 3:38585721-38585721	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6030G>A; p.R2010R; 3:38550342-38550342	skin	malignant_melanoma	Substitution - coding silent
c.5725C>T; p.Q1909*; 3:38550647-38550647	skin	malignant_melanoma	Substitution - Nonsense
c.3022C>T; p.P1008S; 3:38581137-38581137	skin	malignant_melanoma	Substitution - Missense
c.664C>T; p.R222*; 3:38613782-38613782	skin	malignant_melanoma	Substitution - Nonsense
c.1891A>T; p.T631S; 3:38599050-38599050	thyroid	other; neoplasm	Substitution - Missense
c.1960G>A; p.E654K; 3:38598981-38598981	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2235C>T; p.F745F; 3:38597756-38597756	skin	malignant_melanoma	Substitution - coding silent
c.4913G>A; p.R1638Q; 3:38551459-38551459	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2235C>T; p.F745F; 3:38597756-38597756	skin	malignant_melanoma	Substitution - coding silent
c.436G>A; p.V146M; 3:38622446-38622446	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1019G>A; p.R340Q; 3:38606790-38606790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4506C>T; p.G1502G; 3:38555692-38555692	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1347C>A; p.T449T; 3:38604900-38604900	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1673A>G; p.H558R; 3:38603929-38603929	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3725C>T; p.A1242V; 3:38566524-38566524	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1205T>C; p.F402S; 3:38606084-38606084	central_nervous_system; brainstem	glioma; astrocytoma_Grade_III	Substitution - Missense
c.4377C>A; p.F1459L; 3:38556501-38556501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3838G>C; p.D1280H; 3:38566411-38566411	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5091C>T; p.F1697F; 3:38551281-38551281	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - coding silent
c.5091C>T; p.F1697F; 3:38551281-38551281	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - coding silent
c.5091C>T; p.F1697F; 3:38551281-38551281	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - coding silent
c.1600A>T; p.R534W; 3:38604002-38604002	breast	carcinoma	Substitution - Missense
c.3774G>T; p.W1258C; 3:38566475-38566475	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5091C>T; p.F1697F; 3:38551281-38551281	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - coding silent
c.2383G>A; p.E795K; 3:38587453-38587453	skin	malignant_melanoma	Substitution - Missense
c.2383G>A; p.E795K; 3:38587453-38587453	skin	malignant_melanoma	Substitution - Missense
c.4344C>A; p.I1448I; 3:38556534-38556534	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2239G>A; p.E747K; 3:38597752-38597752	skin	malignant_melanoma	Substitution - Missense
c.1604G>A; p.R535Q; 3:38603998-38603998	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2671_2673delATC; p.I891delI; 3:38585805-38585807	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - In frame
c.4250C>T; p.T1417I; 3:38557280-38557280	central_nervous_system; brain	glioma	Substitution - Missense
c.5393G>T; p.W1798L; 3:38550979-38550979	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2957G>A; p.R986Q; 3:38581202-38581202	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.423C>T; p.I141I; 3:38622459-38622459	skin	malignant_melanoma	Substitution - coding silent
c.3747C>A; p.V1249V; 3:38566502-38566502	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1599C>T; p.R533R; 3:38604003-38604003	breast	carcinoma	Substitution - coding silent
c.6006C>A; p.A2002A; 3:38550366-38550366	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4912C>A; p.R1638R; 3:38551460-38551460	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1336G>A; p.E446K; 3:38605953-38605953	skin	malignant_melanoma	Substitution - Missense
c.6050G>A; p.2017; 3:38550322-38550322	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.6050G>A; p.2017; 3:38550322-38550322	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6006C>A; p.A2002A; 3:38550366-38550366	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1336G>A; p.E446K; 3:38605953-38605953	skin	malignant_melanoma	Substitution - Missense
c.5667C>T; p.Y1889Y; 3:38550705-38550705	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3207G>T; p.T1069T; 3:38580952-38580952	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4822C>A; p.L1608I; 3:38551550-38551550	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1572C>T; p.S524S; 3:38604030-38604030	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1412G>T; p.S471I; 3:38604835-38604835	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1335C>A; p.H445Q; 3:38605954-38605954	liver	carcinoma	Substitution - Missense
c.2509G>A; p.G837R; 3:38585969-38585969	breast	carcinoma	Substitution - Missense
c.2713G>A; p.D905N; 3:38585765-38585765	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4973T>A; p.F1658Y; 3:38551399-38551399	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1335C>A; p.H445Q; 3:38605954-38605954	liver	carcinoma	Substitution - Missense
c.5963T>G; p.L1988R; 3:38550409-38550409	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3890G>T; p.G1297V; 3:38562488-38562488	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.105C>T; p.G35G; 3:38633203-38633203	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.865G>A; p.G289S; 3:38609803-38609803	breast	carcinoma	Substitution - Missense
c.3774G>A; p.W1258*; 3:38566475-38566475	skin	malignant_melanoma	Substitution - Nonsense
c.4890A>T; p.I1630I; 3:38551482-38551482	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3222C>G; p.S1074R; 3:38580937-38580937	ovary	other; neoplasm	Substitution - Missense
c.3996G>A; p.P1332P; 3:38560396-38560396	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2957G>T; p.R986L; 3:38581202-38581202	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1071C>T; p.S357S; 3:38606738-38606738	skin	malignant_melanoma	Substitution - coding silent
c.4943T>G; p.F1648C; 3:38551429-38551429	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.460C>T; p.P154S; 3:38622422-38622422	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5031C>T; p.A1677A; 3:38551341-38551341	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.53G>T; p.R18L; 3:38633255-38633255	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5898C>A; p.S1966S; 3:38550474-38550474	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4913G>T; p.R1638L; 3:38551459-38551459	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.5143G>A; p.G1715S; 3:38551229-38551229	skin	malignant_melanoma	Substitution - Missense
c.4567G>A; p.D1523N; 3:38554525-38554525	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1982G>A; p.R661Q; 3:38598959-38598959	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5227G>A; p.G1743R; 3:38551145-38551145	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3117C>G; p.P1039P; 3:38581042-38581042	skin	malignant_melanoma	Substitution - coding silent
c.5799C>A; p.G1933G; 3:38550573-38550573	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1045G>T; p.D349Y; 3:38606764-38606764	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.390C>T; p.H130H; 3:38630313-38630313	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.79C>T; p.R27C; 3:38633229-38633229	central_nervous_system; brain	glioma	Substitution - Missense
c.196G>A; p.D66N; 3:38633112-38633112	skin	malignant_melanoma	Substitution - Missense
c.4916G>T; p.G1639V; 3:38551456-38551456	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2493C>T; p.I831I; 3:38585985-38585985	skin	malignant_melanoma	Substitution - coding silent
c.754G>A; p.D252N; 3:38609914-38609914	skin	malignant_melanoma	Substitution - Missense
c.5760T>G; p.S1920S; 3:38550612-38550612	skin	malignant_melanoma	Substitution - coding silent
c.4772G>A; p.W1591*; 3:38554320-38554320	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2145G>T; p.M715I; 3:38597846-38597846	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1433G>T; p.R478M; 3:38604814-38604814	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5744A>C; p.H1915P; 3:38550628-38550628	breast	carcinoma	Substitution - Missense
c.3633C>T; p.I1211I; 3:38575330-38575330	skin	malignant_melanoma	Substitution - coding silent
c.22C>T; p.R8W; 3:38633286-38633286	skin	malignant_melanoma	Substitution - Missense
c.22C>T; p.R8W; 3:38633286-38633286	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1160A>C; p.K387T; 3:38606129-38606129	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2548G>A; p.V850M; 3:38585930-38585930	NS	NS	Substitution - Missense
c.3835G>A; p.V1279I; 3:38566414-38566414	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3395C>T; p.P1132L; 3:38576777-38576777	skin	malignant_melanoma	Substitution - Missense
c.420C>T; p.T140T; 3:38622462-38622462	skin	malignant_melanoma	Substitution - coding silent
c.3483C>G; p.V1161V; 3:38576689-38576689	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3523C>T; p.R1175C; 3:38575440-38575440	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3523C>T; p.R1175C; 3:38575440-38575440	skin	malignant_melanoma	Substitution - Missense
c.2578C>A; p.L860I; 3:38585900-38585900	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4996C>T; p.L1666F; 3:38551376-38551376	liver	carcinoma	Substitution - Missense
c.1772_1773insA; p.N592fs*129; 3:38603829-38603830	oesophagus; lower_third	carcinoma; adenocarcinoma	Insertion - Frameshift
c.940T>C; p.Y314H; 3:38608209-38608209	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2887delC; p.L963fs*182; 3:38581272-38581272	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.4996C>T; p.L1666F; 3:38551376-38551376	liver	carcinoma	Substitution - Missense
c.3039C>T; p.P1013P; 3:38581120-38581120	skin	malignant_melanoma	Substitution - coding silent
c.1237G>A; p.A413T; 3:38606052-38606052	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1061G>T; p.S354I; 3:38606748-38606748	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1061G>T; p.S354I; 3:38606748-38606748	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3311C>A; p.S1104Y; 3:38579413-38579413	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5482G>A; p.A1828T; 3:38550890-38550890	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1061G>T; p.S354I; 3:38606748-38606748	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2553C>T; p.F851F; 3:38585925-38585925	skin	malignant_melanoma	Substitution - coding silent
c.4926_4927insG; p.I1643fs*146; 3:38551445-38551446	oesophagus	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2496C>T; p.I832I; 3:38585982-38585982	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3994C>T; p.P1332S; 3:38560398-38560398	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3226C>A; p.Q1076K; 3:38580933-38580933	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3108G>A; p.Q1036Q; 3:38581051-38581051	skin	malignant_melanoma	Substitution - coding silent
c.3994C>T; p.P1332S; 3:38560398-38560398	skin	malignant_melanoma	Substitution - Missense
c.2365G>A; p.V789I; 3:38587471-38587471	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4710C>T; p.I1570I; 3:38554382-38554382	skin	malignant_melanoma	Substitution - coding silent
c.2365G>A; p.V789I; 3:38587471-38587471	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4340A>T; p.Y1447F; 3:38556538-38556538	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5394G>A; p.W1798*; 3:38550978-38550978	skin	malignant_melanoma	Substitution - Nonsense
c.3350A>T; p.Q1117L; 3:38579374-38579374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2002G>A; p.V668I; 3:38598939-38598939	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1557T>C; p.S519S; 3:38604045-38604045	liver	carcinoma	Substitution - coding silent
c.1639G>A; p.E547K; 3:38603963-38603963	skin	malignant_melanoma	Substitution - Missense
c.5191delA; p.T1731fs*56; 3:38551181-38551181	liver	carcinoma	Deletion - Frameshift
c.5811C>T; p.S1937S; 3:38550561-38550561	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2677C>T; p.R893C; 3:38585801-38585801	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4674delC; p.N1558fs*73; 3:38554418-38554418	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.1315G>T; p.E439*; 3:38605974-38605974	breast	carcinoma	Substitution - Nonsense
c.3924C>T; p.L1308L; 3:38562454-38562454	skin	malignant_melanoma	Substitution - coding silent
c.4826C>T; p.S1609L; 3:38551546-38551546	skin	malignant_melanoma	Substitution - Missense
c.2253C>T; p.V751V; 3:38597738-38597738	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2812C>T; p.L938L; 3:38581347-38581347	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2690G>A; p.G897E; 3:38585788-38585788	skin	malignant_melanoma	Substitution - Missense
c.2204C>T; p.A735V; 3:38597787-38597787	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5457T>C; p.D1819D; 3:38550915-38550915	thyroid	other; neoplasm	Substitution - coding silent
c.2253C>T; p.V751V; 3:38597738-38597738	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2397C>A; p.S799S; 3:38587439-38587439	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1291G>A; p.E431K; 3:38605998-38605998	skin	malignant_melanoma	Substitution - Missense
c.5144G>A; p.G1715D; 3:38551228-38551228	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1291G>A; p.E431K; 3:38605998-38605998	skin; trunk	malignant_melanoma	Substitution - Missense
c.5613G>A; p.L1871L; 3:38550759-38550759	skin	malignant_melanoma	Substitution - coding silent
c.2676C>T; p.F892F; 3:38585802-38585802	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.362G>A; p.R121Q; 3:38630341-38630341	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2343G>A; p.W781*; 3:38587493-38587493	skin	malignant_melanoma	Substitution - Nonsense
c.158G>A; p.R53Q; 3:38633150-38633150	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5727G>A; p.Q1909Q; 3:38550645-38550645	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2211G>A; p.E737E; 3:38597780-38597780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3603C>T; p.I1201I; 3:38575360-38575360	skin	malignant_melanoma	Substitution - coding silent
c.2857G>A; p.D953N; 3:38581302-38581302	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3573G>A; p.W1191*; 3:38575390-38575390	prostate	carcinoma	Substitution - Nonsense
c.4998C>T; p.L1666L; 3:38551374-38551374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1140_1140+1GG>AA; p.?; 3:38606668-38606669	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.4998C>T; p.L1666L; 3:38551374-38551374	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.4407C>T; p.I1469I; 3:38556471-38556471	skin	malignant_melanoma	Substitution - coding silent
c.273G>T; p.K91N; 3:38633035-38633035	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1742C>T; p.S581L; 3:38603860-38603860	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5831G>A; p.R1944Q; 3:38550541-38550541	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1742C>T; p.S581L; 3:38603860-38603860	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1742C>T; p.S581L; 3:38603860-38603860	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1742C>T; p.S581L; 3:38603860-38603860	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3009C>T; p.S1003S; 3:38581150-38581150	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4827G>A; p.S1609S; 3:38551545-38551545	breast	carcinoma	Substitution - coding silent
c.2617T>C; p.S873P; 3:38585861-38585861	liver	carcinoma	Substitution - Missense
c.3203G>T; p.G1068V; 3:38580956-38580956	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1099C>T; p.R367C; 3:38606710-38606710	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4172G>A; p.G1391E; 3:38560220-38560220	skin	malignant_melanoma	Substitution - Missense
c.1744G>A; p.A582T; 3:38603858-38603858	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.499A>G; p.I167V; 3:38620955-38620955	prostate	carcinoma	Substitution - Missense
c.5994T>C; p.S1998S; 3:38550378-38550378	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1371_1372CC>TT; p.R458C; 3:38604875-38604876	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2061G>A; p.W687*; 3:38597930-38597930	skin	malignant_melanoma	Substitution - Nonsense
c.255C>A; p.P85P; 3:38633053-38633053	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3595T>A; p.Y1199N; 3:38575368-38575368	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1402C>T; p.P468S; 3:38604845-38604845	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4061A>G; p.N1354S; 3:38560331-38560331	liver	carcinoma	Substitution - Missense
c.5163C>T; p.L1721L; 3:38551209-38551209	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4061A>G; p.N1354S; 3:38560331-38560331	liver	carcinoma	Substitution - Missense
c.794C>T; p.A265V; 3:38609874-38609874	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5956G>A; p.D1986N; 3:38550416-38550416	NS	malignant_melanoma	Substitution - Missense
c.5956G>A; p.D1986N; 3:38550416-38550416	skin	malignant_melanoma	Substitution - Missense
c.2799C>T; p.L933L; 3:38581360-38581360	skin	malignant_melanoma	Substitution - coding silent
c.5037C>T; p.F1679F; 3:38551335-38551335	skin	malignant_melanoma	Substitution - coding silent
c.5037C>T; p.F1679F; 3:38551335-38551335	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1504G>A; p.G502S; 3:38604743-38604743	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1935C>A; p.S645S; 3:38599006-38599006	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.229G>A; p.G77R; 3:38633079-38633079	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.228C>T; p.I76I; 3:38633080-38633080	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2250G>A; p.Q750Q; 3:38597741-38597741	skin	malignant_melanoma	Substitution - coding silent
c.4931G>A; p.R1644H; 3:38551441-38551441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5626G>T; p.E1876*; 3:38550746-38550746	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5878C>T; p.L1960F; 3:38550494-38550494	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.266C>T; p.T89I; 3:38633042-38633042	skin	malignant_melanoma	Substitution - Missense
c.3393C>T; p.T1131T; 3:38576779-38576779	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.5139G>A; p.W1713*; 3:38551233-38551233	skin	malignant_melanoma	Substitution - Nonsense
c.6007G>A; p.D2003N; 3:38550365-38550365	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1194C>T; p.F398F; 3:38606095-38606095	skin	malignant_melanoma	Substitution - coding silent
c.4299+1delG; p.?; 3:38557230-38557230	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.4131C>A; p.I1377I; 3:38560261-38560261	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2608G>A; p.D870N; 3:38585870-38585870	skin	malignant_melanoma	Substitution - Missense
c.4853C>T; p.S1618F; 3:38551519-38551519	skin	malignant_melanoma	Substitution - Missense
c.5086A>G; p.T1696A; 3:38551286-38551286	breast	carcinoma	Substitution - Missense
c.663C>T; p.F221F; 3:38613783-38613783	skin	malignant_melanoma	Substitution - coding silent
c.4131C>T; p.I1377I; 3:38560261-38560261	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3810C>G; p.A1270A; 3:38566439-38566439	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4186delA; p.T1396fs*3; 3:38560206-38560206	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.3999C>T; p.S1333S; 3:38560393-38560393	skin	malignant_melanoma	Substitution - coding silent
c.2273G>A; p.G758E; 3:38587563-38587563	skin	malignant_melanoma	Substitution - Missense
c.6006C>T; p.A2002A; 3:38550366-38550366	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6006C>T; p.A2002A; 3:38550366-38550366	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2196C>T; p.L732L; 3:38597795-38597795	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5374G>A; p.D1792N; 3:38550998-38550998	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1451C>T; p.S484L; 3:38604796-38604796	skin	malignant_melanoma	Substitution - Missense
c.5374G>A; p.D1792N; 3:38550998-38550998	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4290C>A; p.D1430E; 3:38557240-38557240	NS	NS	Substitution - Missense
c.393G>A; p.S131S; 3:38622489-38622489	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.393G>A; p.S131S; 3:38622489-38622489	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4758C>A; p.Y1586*; 3:38554334-38554334	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.5374G>A; p.D1792N; 3:38550998-38550998	pancreas	NS	Substitution - Missense
c.393G>A; p.S131S; 3:38622489-38622489	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5572A>G; p.T1858A; 3:38550800-38550800	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2593T>C; p.Y865H; 3:38585885-38585885	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4903A>G; p.R1635G; 3:38551469-38551469	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3924C>A; p.L1308L; 3:38562454-38562454	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1379C>T; p.S460F; 3:38604868-38604868	skin	malignant_melanoma	Substitution - Missense
c.5526G>A; p.M1842I; 3:38550846-38550846	breast	carcinoma	Substitution - Missense
c.1379C>T; p.S460F; 3:38604868-38604868	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5173C>A; p.P1725T; 3:38551199-38551199	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1599_1600CA>TT; p.R534W; 3:38604002-38604003	breast	carcinoma	Substitution - Missense
c.2239G>T; p.E747*; 3:38597752-38597752	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5329G>A; p.V1777M; 3:38551043-38551043	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1284G>A; p.E428E; 3:38606005-38606005	skin	malignant_melanoma	Substitution - coding silent
c.213A>T; p.P71P; 3:38633095-38633095	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.4855C>A; p.P1619T; 3:38551517-38551517	thyroid	other; neoplasm	Substitution - Missense
c.904G>A; p.E302K; 3:38609764-38609764	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3183A>G; p.E1061E; 3:38580976-38580976	breast	carcinoma	Substitution - coding silent
c.1336G>T; p.E446*; 3:38605953-38605953	breast	carcinoma	Substitution - Nonsense
c.1773G>T; p.K591N; 3:38603829-38603829	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2066G>A; p.R689H; 3:38597925-38597925	pancreas	carcinoma	Substitution - Missense
c.2066G>A; p.R689H; 3:38597925-38597925	skin	malignant_melanoma	Substitution - Missense
c.2066G>A; p.R689H; 3:38597925-38597925	pancreas	carcinoma	Substitution - Missense
c.2066G>A; p.R689H; 3:38597925-38597925	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3183A>G; p.E1061E; 3:38580976-38580976	thyroid	other; neoplasm	Substitution - coding silent
c.5615A>G; p.K1872R; 3:38550757-38550757	skin	malignant_melanoma	Substitution - Missense
c.2066G>A; p.R689H; 3:38597925-38597925	pancreas	carcinoma	Substitution - Missense
c.3786C>T; p.G1262G; 3:38566463-38566463	skin	malignant_melanoma	Substitution - coding silent
c.1942C>T; p.P648S; 3:38598999-38598999	skin	malignant_melanoma	Substitution - Missense
c.2118C>T; p.I706I; 3:38597873-38597873	skin	malignant_melanoma	Substitution - coding silent
c.1014C>A; p.G338G; 3:38606795-38606795	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1014C>A; p.G338G; 3:38606795-38606795	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1035C>T; p.G345G; 3:38606774-38606774	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4782C>T; p.F1594F; 3:38554310-38554310	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5540G>A; p.R1847H; 3:38550832-38550832	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1380C>T; p.S460S; 3:38604867-38604867	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5540G>A; p.R1847H; 3:38550832-38550832	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.844C>T; p.R282C; 3:38609824-38609824	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.29C>A; p.T10N; 3:38633279-38633279	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4223G>A; p.G1408E; 3:38560169-38560169	skin	malignant_melanoma	Substitution - Missense
c.913G>A; p.D305N; 3:38609755-38609755	liver	carcinoma	Substitution - Missense
c.5185G>A; p.D1729N; 3:38551187-38551187	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2392C>T; p.L798L; 3:38587444-38587444	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.783C>T; p.L261L; 3:38609885-38609885	breast	carcinoma	Substitution - coding silent
c.4930C>T; p.R1644C; 3:38551442-38551442	skin	malignant_melanoma	Substitution - Missense
c.1721G>A; p.G574E; 3:38603881-38603881	skin	malignant_melanoma	Substitution - Missense
c.913G>A; p.D305N; 3:38609755-38609755	liver	carcinoma	Substitution - Missense
c.4593C>T; p.D1531D; 3:38554499-38554499	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1098C>A; p.F366L; 3:38606711-38606711	ovary	other; neoplasm	Substitution - Missense
c.517C>T; p.L173L; 3:38620937-38620937	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3691G>A; p.E1231K; 3:38566558-38566558	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2649C>A; p.D883E; 3:38585829-38585829	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1735G>A; p.G579R; 3:38603867-38603867	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3695G>A; p.R1232Q; 3:38566554-38566554	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2649C>A; p.D883E; 3:38585829-38585829	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4539C>T; p.P1513P; 3:38555659-38555659	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2301G>T; p.K767N; 3:38587535-38587535	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1522C>T; p.H508Y; 3:38604080-38604080	skin	malignant_melanoma	Substitution - Missense
c.802G>A; p.G268S; 3:38609866-38609866	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6031G>A; p.D2011N; 3:38550341-38550341	skin	malignant_melanoma	Substitution - Missense
c.1345_1346delAC; p.T449fs*10; 3:38604901-38604902	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3346C>T; p.R1116W; 3:38579378-38579378	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.8A>G; p.N3S; 3:38633300-38633300	skin	malignant_melanoma	Substitution - Missense
c.2994G>T; p.Q998H; 3:38581165-38581165	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5726A>G; p.Q1909R; 3:38550646-38550646	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4919C>G; p.A1640G; 3:38551453-38551453	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.125G>T; p.S42I; 3:38633183-38633183	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3049G>A; p.E1017K; 3:38581110-38581110	skin	malignant_melanoma	Substitution - Missense
c.1905G>T; p.E635D; 3:38599036-38599036	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5226C>T; p.C1742C; 3:38551146-38551146	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1431G>C; p.K477N; 3:38604816-38604816	breast	carcinoma	Substitution - Missense
c.5029G>A; p.A1677T; 3:38551343-38551343	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4174G>T; p.E1392*; 3:38560218-38560218	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.5532T>C; p.S1844S; 3:38550840-38550840	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4742C>A; p.A1581D; 3:38554350-38554350	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1901C>T; p.S634L; 3:38599040-38599040	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1951G>C; p.D651H; 3:38598990-38598990	breast	carcinoma	Substitution - Missense
c.5633A>T; p.K1878M; 3:38550739-38550739	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2595C>T; p.Y865Y; 3:38585883-38585883	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.3521G>A; p.R1174Q; 3:38575442-38575442	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.364A>G; p.R122G; 3:38630339-38630339	oesophagus	carcinoma	Substitution - Missense
c.3828C>T; p.F1276F; 3:38566421-38566421	skin	malignant_melanoma	Substitution - coding silent
c.3024delC; p.Y1009fs*136; 3:38581135-38581135	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3270G>A; p.P1090P; 3:38579454-38579454	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.3024delC; p.Y1009fs*136; 3:38581135-38581135	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4497G>A; p.K1499K; 3:38555701-38555701	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4497G>A; p.K1499K; 3:38555701-38555701	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1553C>A; p.T518N; 3:38604049-38604049	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.4521G>A; p.Q1507Q; 3:38555677-38555677	skin	malignant_melanoma	Substitution - coding silent
c.6045C>T; p.I2015I; 3:38550327-38550327	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.282C>T; p.I94I; 3:38630421-38630421	skin	malignant_melanoma	Substitution - coding silent
c.1959C>T; p.F653F; 3:38598982-38598982	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1959C>T; p.F653F; 3:38598982-38598982	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.733C>T; p.Q245*; 3:38609935-38609935	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1755C>T; p.H585H; 3:38603847-38603847	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.676G>A; p.A226T; 3:38613770-38613770	skin	malignant_melanoma	Substitution - Missense
c.282C>T; p.I94I; 3:38630421-38630421	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.301A>G; p.T101A; 3:38630402-38630402	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4980C>T; p.I1660I; 3:38551392-38551392	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1036G>A; p.E346K; 3:38606773-38606773	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4980C>T; p.I1660I; 3:38551392-38551392	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.842T>C; p.V281A; 3:38609826-38609826	skin	malignant_melanoma	Substitution - Missense
c.2295C>T; p.T765T; 3:38587541-38587541	prostate	carcinoma	Substitution - coding silent
c.4234C>T; p.L1412F; 3:38560158-38560158	skin; trunk	malignant_melanoma	Substitution - Missense
c.4074G>A; p.G1358G; 3:38560318-38560318	skin	malignant_melanoma	Substitution - coding silent
c.5435C>T; p.S1812L; 3:38550937-38550937	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5738G>A; p.R1913H; 3:38550634-38550634	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1164C>A; p.I388I; 3:38606125-38606125	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4292C>T; p.S1431F; 3:38557238-38557238	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5868C>T; p.F1956F; 3:38550504-38550504	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3440C>A; p.T1147N; 3:38576732-38576732	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.346C>T; p.P116S; 3:38630357-38630357	skin; trunk	malignant_melanoma	Substitution - Missense
c.346C>T; p.P116S; 3:38630357-38630357	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3061C>T; p.P1021S; 3:38581098-38581098	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2863G>A; p.E955K; 3:38581296-38581296	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.673C>T; p.R225W; 3:38613773-38613773	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2982C>T; p.A994A; 3:38581177-38581177	skin	malignant_melanoma	Substitution - coding silent
c.4102G>A; p.E1368K; 3:38560290-38560290	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1193T>G; p.F398C; 3:38606096-38606096	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5932G>C; p.D1978H; 3:38550440-38550440	thyroid	carcinoma	Substitution - Missense
c.5932G>C; p.D1978H; 3:38550440-38550440	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5932G>C; p.D1978H; 3:38550440-38550440	thyroid	carcinoma	Substitution - Missense
c.1098_1099CC>TT; p.R367C; 3:38606710-38606711	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1972G>A; p.A658T; 3:38598969-38598969	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.893G>A; p.G298D; 3:38609775-38609775	liver	carcinoma	Substitution - Missense
c.893G>A; p.G298D; 3:38609775-38609775	liver	carcinoma	Substitution - Missense
c.1483C>T; p.P495S; 3:38604764-38604764	skin	malignant_melanoma	Substitution - Missense
c.3718G>C; p.E1240Q; 3:38566531-38566531	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2597C>T; p.S866L; 3:38585881-38585881	skin	malignant_melanoma	Substitution - Missense
c.3929C>T; p.P1310L; 3:38562449-38562449	skin; extremity	malignant_melanoma	Substitution - Missense
c.5337G>A; p.T1779T; 3:38551035-38551035	skin	malignant_melanoma	Substitution - coding silent
c.2165C>T; p.T722I; 3:38597826-38597826	skin	malignant_melanoma	Substitution - Missense
c.1733C>T; p.P578L; 3:38603869-38603869	skin	malignant_melanoma	Substitution - Missense
c.3434C>T; p.T1145I; 3:38576738-38576738	pancreas	carcinoma	Substitution - Missense
c.3584G>A; p.R1195H; 3:38575379-38575379	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2292G>A; p.M764I; 3:38587544-38587544	skin	malignant_melanoma	Substitution - Missense
c.3513C>A; p.G1171G; 3:38575450-38575450	breast	carcinoma	Substitution - coding silent
c.3584G>A; p.R1195H; 3:38575379-38575379	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3584G>A; p.R1195H; 3:38575379-38575379	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.346_347CC>TT; p.P116F; 3:38630356-38630357	skin; trunk	malignant_melanoma	Substitution - Missense
c.2524C>T; p.L842L; 3:38585954-38585954	skin	malignant_melanoma	Substitution - coding silent
c.157C>T; p.R53W; 3:38633151-38633151	central_nervous_system; frontal_lobe	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1441C>T; p.R481W; 3:38604806-38604806	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1890+1G>A; p.?; 3:38603711-38603711	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.3841G>T; p.V1281F; 3:38562537-38562537	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.189G>C; p.K63N; 3:38633119-38633119	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1803C>T; p.V601V; 3:38603799-38603799	skin	malignant_melanoma	Substitution - coding silent
c.157C>T; p.R53W; 3:38633151-38633151	pancreas	carcinoma	Substitution - Missense
c.5689C>T; p.R1897W; 3:38550683-38550683	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.480C>T; p.V160V; 3:38622402-38622402	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2934G>A; p.W978*; 3:38581225-38581225	skin	malignant_melanoma	Substitution - Nonsense
c.553G>A; p.A185T; 3:38620901-38620901	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4876C>T; p.R1626C; 3:38551496-38551496	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.845G>A; p.R282H; 3:38609823-38609823	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.999G>T; p.G333G; 3:38606810-38606810	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.999G>T; p.G333G; 3:38606810-38606810	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3721T>A; p.Y1241N; 3:38566528-38566528	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2572A>G; p.M858V; 3:38585906-38585906	liver	carcinoma	Substitution - Missense
c.2894G>A; p.R965H; 3:38581265-38581265	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.999G>T; p.G333G; 3:38606810-38606810	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2763T>C; p.L921L; 3:38585715-38585715	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3245T>G; p.V1082G; 3:38579479-38579479	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1597C>T; p.R533C; 3:38604005-38604005	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5693G>C; p.R1898P; 3:38550679-38550679	skin; trunk	malignant_melanoma	Substitution - Missense
c.2206C>A; p.L736M; 3:38597785-38597785	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1603C>T; p.R535*; 3:38603999-38603999	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3699G>A; p.K1233K; 3:38566550-38566550	skin	malignant_melanoma	Substitution - coding silent
c.4576A>G; p.T1526A; 3:38554516-38554516	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4057G>A; p.V1353M; 3:38560335-38560335	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.532G>A; p.A178T; 3:38620922-38620922	skin	malignant_melanoma	Substitution - Missense
c.891C>T; p.D297D; 3:38609777-38609777	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5663C>T; p.S1888F; 3:38550709-38550709	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4916G>A; p.G1639E; 3:38551456-38551456	skin	malignant_melanoma	Substitution - Missense
c.4686G>A; p.K1562K; 3:38554406-38554406	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.5837G>T; p.G1946V; 3:38550535-38550535	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3157G>A; p.E1053K; 3:38581002-38581002	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1862C>A; p.P621H; 3:38603740-38603740	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4725T>C; p.C1575C; 3:38554367-38554367	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3912G>A; p.T1304T; 3:38562466-38562466	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.816C>A; p.F272L; 3:38609852-38609852	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3157G>A; p.E1053K; 3:38581002-38581002	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3157G>A; p.E1053K; 3:38581002-38581002	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4458C>T; p.F1486F; 3:38555740-38555740	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.386T>C; p.V129A; 3:38630317-38630317	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3438C>T; p.N1146N; 3:38576734-38576734	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.765C>T; p.V255V; 3:38609903-38609903	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3073G>T; p.E1025*; 3:38581086-38581086	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4009G>A; p.V1337I; 3:38560383-38560383	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3663G>A; p.A1221A; 3:38575300-38575300	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3358A>G; p.K1120E; 3:38579366-38579366	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.765C>T; p.V255V; 3:38609903-38609903	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.3340G>A; p.D1114N; 3:38579384-38579384	skin	malignant_melanoma	Substitution - Missense
c.4035G>T; p.W1345C; 3:38560357-38560357	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1726C>T; p.P576S; 3:38603876-38603876	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4161G>C; p.L1387F; 3:38560231-38560231	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.5845G>A; p.A1949T; 3:38550527-38550527	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3178G>A; p.E1060K; 3:38580981-38580981	NS	malignant_melanoma	Substitution - Missense
c.3192G>A; p.E1064E; 3:38580967-38580967	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3178G>A; p.E1060K; 3:38580981-38580981	NS	malignant_melanoma	Substitution - Missense
c.4134G>A; p.V1378V; 3:38560258-38560258	skin; abdomen	malignant_melanoma	Substitution - coding silent
c.4806C>T; p.S1602S; 3:38554286-38554286	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2032G>A; p.E678K; 3:38597959-38597959	skin	malignant_melanoma	Substitution - Missense
c.1141-3C>A; p.?; 3:38606151-38606151	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.4534C>T; p.R1512W; 3:38555664-38555664	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.4469A>T; p.E1490V; 3:38555729-38555729	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5085G>C; p.Q1695H; 3:38551287-38551287	oesophagus	carcinoma	Substitution - Missense
c.4469A>T; p.E1490V; 3:38555729-38555729	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3162A>G; p.S1054S; 3:38580997-38580997	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.796C>T; p.L266F; 3:38609872-38609872	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2274G>A; p.G758G; 3:38587562-38587562	skin	malignant_melanoma	Substitution - coding silent
c.4534C>T; p.R1512W; 3:38555664-38555664	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.4720G>C; p.E1574Q; 3:38554372-38554372	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1575C>G; p.S525R; 3:38604027-38604027	thyroid	other; neoplasm	Substitution - Missense
c.1027A>G; p.K343E; 3:38606782-38606782	skin	malignant_melanoma	Substitution - Missense
c.3583C>T; p.R1195C; 3:38575380-38575380	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3208G>A; p.E1070K; 3:38580951-38580951	skin	malignant_melanoma	Substitution - Missense
c.3583C>T; p.R1195C; 3:38575380-38575380	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5960A>T; p.N1987I; 3:38550412-38550412	skin	malignant_melanoma	Substitution - Missense
c.4950C>T; p.L1650L; 3:38551422-38551422	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3583C>T; p.R1195C; 3:38575380-38575380	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3583C>T; p.R1195C; 3:38575380-38575380	pancreas	carcinoma	Substitution - Missense
c.4937T>G; p.L1646R; 3:38551435-38551435	skin	malignant_melanoma	Substitution - Missense
c.3583C>T; p.R1195C; 3:38575380-38575380	pancreas	carcinoma	Substitution - Missense
c.4213G>A; p.V1405M; 3:38560179-38560179	breast	carcinoma	Substitution - Missense
c.674G>T; p.R225L; 3:38613772-38613772	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1330G>T; p.E444*; 3:38605959-38605959	thyroid	other; neoplasm	Substitution - Nonsense
c.2601G>T; p.E867D; 3:38585877-38585877	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2912G>A; p.R971H; 3:38581247-38581247	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3582G>A; p.L1194L; 3:38575381-38575381	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2912G>A; p.R971H; 3:38581247-38581247	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1297C>T; p.R433C; 3:38605992-38605992	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1272C>T; p.I424I; 3:38606017-38606017	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5851G>A; p.V1951M; 3:38550521-38550521	breast	carcinoma	Substitution - Missense
c.6025G>A; p.D2009N; 3:38550347-38550347	skin	malignant_melanoma	Substitution - Missense
c.1236C>A; p.V412V; 3:38606053-38606053	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5367C>T; p.D1789D; 3:38551005-38551005	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.1272C>T; p.I424I; 3:38606017-38606017	skin	malignant_melanoma	Substitution - coding silent
c.5367C>T; p.D1789D; 3:38551005-38551005	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.361C>T; p.R121W; 3:38630342-38630342	skin	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]