Entrez Gene

Basic Information
Gene ID	10723
Name	SLC12A7
Synonymous	solute carrier family 12 (potassium/chloride transporter), member 7;SLC12A7;solute carrier family 12 (potassium/chloride transporter), member 7
Definition	K-Cl cotransporter 4\|electroneutral potassium-chloride cotransporter 4\|potassium/chloride transporter KCC4\|solute carrier family 12 (potassium/chloride transporters), member 7\|solute carrier family 12 member 7
Position	5p15
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1285C>T; p.P429S; 5:1081589-1081589	skin	malignant_melanoma	Substitution - Missense
c.1873C>T; p.L625L; 5:1075465-1075465	skin	malignant_melanoma	Substitution - coding silent
c.3003C>T; p.F1001F; 5:1057494-1057494	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1873C>T; p.L625L; 5:1075465-1075465	skin	malignant_melanoma	Substitution - coding silent
c.2863G>A; p.D955N; 5:1057634-1057634	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.736G>A; p.A246T; 5:1085413-1085413	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.487T>C; p.C163R; 5:1088984-1088984	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1668_1669GG>AC; p.W556*; 5:1076773-1076774	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.3028G>A; p.D1010N; 5:1053481-1053481	skin; hand	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2186C>T; p.S729L; 5:1073688-1073688	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2515G>T; p.E839*; 5:1064175-1064175	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.2383T>A; p.W795R; 5:1065337-1065337	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2700C>T; p.Y900Y; 5:1063883-1063883	thyroid	other; neoplasm	Substitution - coding silent
c.2700C>T; p.Y900Y; 5:1063883-1063883	breast	carcinoma	Substitution - coding silent
c.2700C>T; p.Y900Y; 5:1063883-1063883	thyroid	other; neoplasm	Substitution - coding silent
c.2862C>T; p.H954H; 5:1057635-1057635	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2700C>T; p.Y900Y; 5:1063883-1063883	thyroid	other; neoplasm	Substitution - coding silent
c.2700C>T; p.Y900Y; 5:1063883-1063883	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2700C>T; p.Y900Y; 5:1063883-1063883	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1190C>T; p.S397L; 5:1081684-1081684	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2700C>T; p.Y900Y; 5:1063883-1063883	thyroid	other; neoplasm	Substitution - coding silent
c.2324C>T; p.S775F; 5:1065396-1065396	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.570G>T; p.S190S; 5:1087008-1087008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1019G>A; p.G340D; 5:1083855-1083855	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2077_2078insC; p.Q693fs*223; 5:1073796-1073797	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.568T>C; p.S190P; 5:1087010-1087010	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2895A>G; p.A965A; 5:1057602-1057602	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.970G>A; p.V324I; 5:1083904-1083904	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.246G>T; p.V82V; 5:1093629-1093629	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1191G>A; p.S397S; 5:1081683-1081683	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1967+2T>C; p.?; 5:1075369-1075369	stomach	carcinoma; adenocarcinoma	Unknown
c.1789G>A; p.A597T; 5:1076196-1076196	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1582C>T; p.R528C; 5:1077880-1077880	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3076G>A; p.V1026I; 5:1053433-1053433	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1150G>T; p.A384S; 5:1081724-1081724	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3103C>T; p.Q1035*; 5:1053406-1053406	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3056C>T; p.T1019M; 5:1053453-1053453	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.298G>T; p.V100L; 5:1093577-1093577	thyroid	other; neoplasm	Substitution - Missense
c.1250C>T; p.A417V; 5:1081624-1081624	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1670C>T; p.A557V; 5:1076772-1076772	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.695C>T; p.A232V; 5:1085454-1085454	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1696G>A; p.E566K; 5:1076746-1076746	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1672C>T; p.L558L; 5:1076770-1076770	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2057_2058insC; p.T687fs*229; 5:1074581-1074582	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.3026+1G>A; p.?; 5:1057470-1057470	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.27C>A; p.P9P; 5:1111965-1111965	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.518C>T; p.A173V; 5:1088332-1088332	central_nervous_system; brain	glioma	Substitution - Missense
c.3187G>A; p.E1063K; 5:1052425-1052425	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.220G>A; p.E74K; 5:1093655-1093655	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.207G>T; p.M69I; 5:1094166-1094166	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2580G>C; p.L860L; 5:1064110-1064110	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.3135delC; p.N1047fs*15; 5:1053374-1053374	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1242C>G; p.T414T; 5:1081632-1081632	liver	carcinoma	Substitution - coding silent
c.1008C>T; p.S336S; 5:1083866-1083866	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1242C>G; p.T414T; 5:1081632-1081632	liver	carcinoma	Substitution - coding silent
c.1856C>T; p.S619F; 5:1075482-1075482	skin; neck	malignant_melanoma	Substitution - Missense
c.2456C>T; p.T819I; 5:1064234-1064234	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1856C>T; p.S619F; 5:1075482-1075482	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3226C>T; p.R1076W; 5:1052386-1052386	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2644G>T; p.A882S; 5:1063939-1063939	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2236G>A; p.E746K; 5:1073638-1073638	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2525G>A; p.G842D; 5:1064165-1064165	liver	carcinoma	Substitution - Missense
c.2557C>T; p.H853Y; 5:1064133-1064133	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.830C>T; p.A277V; 5:1085319-1085319	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2683C>T; p.L895L; 5:1063900-1063900	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1856C>G; p.S619C; 5:1075482-1075482	breast	carcinoma	Substitution - Missense
c.2148G>A; p.S716S; 5:1073726-1073726	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.2719G>A; p.E907K; 5:1063864-1063864	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2719G>A; p.E907K; 5:1063864-1063864	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1313C>G; p.S438*; 5:1079481-1079481	skin	malignant_melanoma	Substitution - Nonsense
c.917C>T; p.P306L; 5:1085232-1085232	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2562C>T; p.D854D; 5:1064128-1064128	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1653C>T; p.N551N; 5:1076789-1076789	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1720C>T; p.L574L; 5:1076722-1076722	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3102G>T; p.A1034A; 5:1053407-1053407	pancreas	carcinoid-endocrine_tumour	Substitution - coding silent
c.2458G>A; p.A820T; 5:1064232-1064232	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2997T>C; p.S999S; 5:1057500-1057500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2997T>C; p.S999S; 5:1057500-1057500	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2997T>C; p.S999S; 5:1057500-1057500	thyroid	other; neoplasm	Substitution - coding silent
c.757G>T; p.V253L; 5:1085392-1085392	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.938G>A; p.R313H; 5:1083936-1083936	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2086G>C; p.V696L; 5:1073788-1073788	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1665G>A; p.T555T; 5:1076777-1076777	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1218C>T; p.A406A; 5:1081656-1081656	breast	carcinoma	Substitution - coding silent
c.1297+3G>A; p.?; 5:1081574-1081574	liver	carcinoma	Unknown
c.1572G>A; p.T524T; 5:1077890-1077890	skin	malignant_melanoma	Substitution - coding silent
c.1051G>A; p.A351T; 5:1083823-1083823	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.652T>A; p.L218M; 5:1086926-1086926	skin	malignant_melanoma	Substitution - Missense
c.553T>G; p.S185A; 5:1087025-1087025	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.908delC; p.P303fs*129; 5:1085241-1085241	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.908delC; p.P303fs*129; 5:1085241-1085241	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1337A>G; p.D446G; 5:1079457-1079457	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2585C>T; p.P862L; 5:1064105-1064105	skin	malignant_melanoma	Substitution - Missense
c.925C>T; p.L309F; 5:1083949-1083949	oesophagus	carcinoma	Substitution - Missense
c.1828C>T; p.R610C; 5:1076157-1076157	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1287T>C; p.P429P; 5:1081587-1081587	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1287T>C; p.P429P; 5:1081587-1081587	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1287T>C; p.P429P; 5:1081587-1081587	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3075C>T; p.G1025G; 5:1053434-1053434	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1920C>T; p.S640S; 5:1075418-1075418	skin	malignant_melanoma	Substitution - coding silent
c.2607+1G>A; p.?; 5:1064082-1064082	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1869G>C; p.M623I; 5:1075469-1075469	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2554G>A; p.V852M; 5:1064136-1064136	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1239C>G; p.L413L; 5:1081635-1081635	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1034G>A; p.G345D; 5:1083840-1083840	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.168C>T; p.V56V; 5:1094205-1094205	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.961G>C; p.D321H; 5:1083913-1083913	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1986C>G; p.G662G; 5:1074653-1074653	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2560G>A; p.D854N; 5:1064130-1064130	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3119A>G; p.N1040S; 5:1053390-1053390	skin	malignant_melanoma	Substitution - Missense
c.1125C>T; p.F375F; 5:1083749-1083749	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2506C>A; p.Q836K; 5:1064184-1064184	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1986C>T; p.G662G; 5:1074653-1074653	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2518C>T; p.R840C; 5:1064172-1064172	prostate	carcinoma	Substitution - Missense
c.1222G>A; p.A408T; 5:1081652-1081652	thyroid	other; neoplasm	Substitution - Missense
c.2961C>G; p.I987M; 5:1057536-1057536	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1987G>A; p.D663N; 5:1074652-1074652	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1966G>T; p.G656W; 5:1075372-1075372	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1230C>A; p.P410P; 5:1081644-1081644	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1987G>A; p.D663N; 5:1074652-1074652	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1263C>T; p.T421T; 5:1081611-1081611	skin	malignant_melanoma	Substitution - coding silent
c.1970C>T; p.A657V; 5:1074669-1074669	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.1489G>T; p.G497C; 5:1077973-1077973	central_nervous_system; brain	glioma	Substitution - Missense
c.1155C>T; p.H385H; 5:1081719-1081719	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3101C>T; p.A1034V; 5:1053408-1053408	pancreas	carcinoma	Substitution - Missense
c.3101C>T; p.A1034V; 5:1053408-1053408	pancreas	carcinoma	Substitution - Missense
c.1455-3_1455-2insCTGC; p.?; 5:1078009-1078010	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1057G>C; p.D353H; 5:1083817-1083817	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2512C>A; p.Q838K; 5:1064178-1064178	pancreas	carcinoma	Substitution - Missense
c.740T>C; p.M247T; 5:1085409-1085409	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1086C>T; p.T362T; 5:1083788-1083788	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.2205C>T; p.Y735Y; 5:1073669-1073669	breast	carcinoma	Substitution - coding silent
c.397C>A; p.L133M; 5:1089074-1089074	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.831G>A; p.A277A; 5:1085318-1085318	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.861C>A; p.S287S; 5:1085288-1085288	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1792G>A; p.V598M; 5:1076193-1076193	ovary	carcinoma; clear_cell_carcinoma	Substitution - Missense
c.2353G>A; p.G785S; 5:1065367-1065367	breast	carcinoma	Substitution - Missense
c.1933G>T; p.A645S; 5:1075405-1075405	central_nervous_system; brain	glioma	Substitution - Missense
c.906C>T; p.P302P; 5:1085243-1085243	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.2962G>A; p.A988T; 5:1057535-1057535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.761A>T; p.Y254F; 5:1085388-1085388	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.663C>T; p.I221I; 5:1086915-1086915	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1087G>A; p.E363K; 5:1083787-1083787	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1306G>C; p.A436P; 5:1079488-1079488	central_nervous_system; brain	glioma	Substitution - Missense
c.1087G>A; p.E363K; 5:1083787-1083787	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1173G>A; p.E391E; 5:1081701-1081701	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1894A>T; p.I632F; 5:1075444-1075444	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.177A>T; p.E59D; 5:1094196-1094196	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.502G>A; p.A168T; 5:1088348-1088348	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3227G>A; p.R1076Q; 5:1052385-1052385	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1170G>A; p.V390V; 5:1081704-1081704	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2200A>G; p.T734A; 5:1073674-1073674	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.416T>A; p.L139Q; 5:1089055-1089055	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2964T>C; p.A988A; 5:1057533-1057533	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2565C>T; p.G855G; 5:1064125-1064125	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1888A>G; p.M630V; 5:1075450-1075450	breast	carcinoma	Substitution - Missense
c.2796G>A; p.R932R; 5:1060395-1060395	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1933G>A; p.A645T; 5:1075405-1075405	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2369C>T; p.T790M; 5:1065351-1065351	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1914G>A; p.A638A; 5:1075424-1075424	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.641C>T; p.A214V; 5:1086937-1086937	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.1224A>G; p.A408A; 5:1081650-1081650	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2134C>T; p.L712L; 5:1073740-1073740	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.201G>C; p.K67N; 5:1094172-1094172	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1971C>T; p.A657A; 5:1074668-1074668	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2167G>T; p.G723C; 5:1073707-1073707	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2842C>G; p.R948G; 5:1060349-1060349	skin	malignant_melanoma	Substitution - Missense
c.2129G>A; p.R710H; 5:1073745-1073745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.347C>T; p.P116L; 5:1089124-1089124	pancreas	carcinoma	Substitution - Missense
c.142G>T; p.E48*; 5:1094231-1094231	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.343-2A>T; p.?; 5:1089130-1089130	lung	carcinoma; adenocarcinoma	Unknown
c.2223G>A; p.E741E; 5:1073651-1073651	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1773C>T; p.F591F; 5:1076212-1076212	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1388C>T; p.S463F; 5:1079406-1079406	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2179G>T; p.V727L; 5:1073695-1073695	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2612G>A; p.W871*; 5:1063971-1063971	skin	malignant_melanoma	Substitution - Nonsense
c.2097C>T; p.N699N; 5:1073777-1073777	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1252G>A; p.A418T; 5:1081622-1081622	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2886C>T; p.T962T; 5:1057611-1057611	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1857C>T; p.S619S; 5:1075481-1075481	skin; neck	malignant_melanoma	Substitution - coding silent
c.198G>A; p.G66G; 5:1094175-1094175	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1009G>A; p.A337T; 5:1083865-1083865	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1728C>T; p.S576S; 5:1076714-1076714	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1548C>T; p.C516C; 5:1077914-1077914	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1164G>A; p.A388A; 5:1081710-1081710	central_nervous_system; brain	glioma	Substitution - coding silent
c.2972A>T; p.Y991F; 5:1057525-1057525	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.754C>T; p.R252C; 5:1085395-1085395	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2909C>T; p.A970V; 5:1057588-1057588	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.458C>T; p.S153F; 5:1089013-1089013	skin	malignant_melanoma	Substitution - Missense
c.953G>T; p.R318L; 5:1083921-1083921	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2770G>C; p.E924Q; 5:1060421-1060421	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1521C>T; p.I507I; 5:1077941-1077941	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.645G>T; p.M215I; 5:1086933-1086933	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.569C>T; p.S190L; 5:1087009-1087009	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1614C>T; p.I538I; 5:1077848-1077848	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2996C>G; p.S999C; 5:1057501-1057501	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2063A>C; p.K688T; 5:1074576-1074576	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3079G>A; p.V1027I; 5:1053430-1053430	kidney	Wilms_tumour	Substitution - Missense
c.2574C>G; p.L858L; 5:1064116-1064116	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1142G>T; p.S381I; 5:1081732-1081732	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3079G>A; p.V1027I; 5:1053430-1053430	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3046C>T; p.R1016W; 5:1053463-1053463	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1448G>A; p.R483Q; 5:1078707-1078707	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1359G>T; p.T453T; 5:1079435-1079435	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2436G>A; p.V812V; 5:1065284-1065284	breast	carcinoma	Substitution - coding silent
c.2056_2057insC; p.H686fs*230; 5:1074582-1074583	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2056_2057insC; p.H686fs*230; 5:1074582-1074583	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1750T>C; p.F584L; 5:1076235-1076235	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.586G>A; p.E196K; 5:1086992-1086992	skin	malignant_melanoma	Substitution - Missense
c.1324G>A; p.G442R; 5:1079470-1079470	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2461G>T; p.A821S; 5:1064229-1064229	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1062G>T; p.E354D; 5:1083812-1083812	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1698G>C; p.E566D; 5:1076744-1076744	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2056delC; p.H686fs*11; 5:1074583-1074583	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2056delC; p.H686fs*11; 5:1074583-1074583	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2312G>A; p.R771Q; 5:1065408-1065408	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2056delC; p.H686fs*11; 5:1074583-1074583	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2056delC; p.H686fs*11; 5:1074583-1074583	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.415C>T; p.L139L; 5:1089056-1089056	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1354C>G; p.P452A; 5:1079440-1079440	skin	malignant_melanoma	Substitution - Missense
c.621G>A; p.L207L; 5:1086957-1086957	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1692C>T; p.I564I; 5:1076750-1076750	skin	malignant_melanoma	Substitution - coding silent
c.1545C>T; p.T515T; 5:1077917-1077917	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3097G>A; p.D1033N; 5:1053412-1053412	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1353C>T; p.I451I; 5:1079441-1079441	skin	malignant_melanoma	Substitution - coding silent
c.2876C>T; p.A959V; 5:1057621-1057621	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense

COSMIC somatic mutation [Top]