Entrez Gene

Basic Information
Gene ID	23405
Name	DICER1

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.4811_4820del10; p.C1604fs*13; 14:95096100-95096109	autonomic_ganglia	neuroblastoma	Deletion - Frameshift
c.26T>A; p.L9H; 14:95133433-95133433	liver	carcinoma	Substitution - Missense
c.26T>A; p.L9H; 14:95133433-95133433	liver	carcinoma	Substitution - Missense
c.5397_5399delAGA; p.E1799del; 14:95091331-95091333	prostate	carcinoma; adenocarcinoma	Deletion - In frame
c.3107A>C; p.E1036A; 14:95105233-95105233	liver	carcinoma	Substitution - Missense
c.3107A>C; p.E1036A; 14:95105233-95105233	liver	carcinoma	Substitution - Missense
c.1026G>C; p.R342S; 14:95124546-95124546	skin	malignant_melanoma	Substitution - Missense
c.54C>A; p.T18T; 14:95133405-95133405	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1510-5_1510-4delTT; p.?; 14:95116699-95116700	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.4511G>A; p.S1504N; 14:95096409-95096409	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5295C>T; p.L1765L; 14:95093957-95093957	NS	malignant_melanoma	Substitution - coding silent
c.5295C>T; p.L1765L; 14:95093957-95093957	NS	malignant_melanoma	Substitution - coding silent
c.1276G>T; p.E426*; 14:95124296-95124296	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.5126A>G; p.D1709G; 14:95094126-95094126	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.1778C>T; p.S593L; 14:95115796-95115796	breast	carcinoma	Substitution - Missense
c.5126A>G; p.D1709G; 14:95094126-95094126	ovary	sex_cord-stromal_tumour; granulosa_cell_tumour	Substitution - Missense
c.5666A>C; p.K1889T; 14:95090601-95090601	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2326G>T; p.V776F; 14:95108434-95108434	breast	carcinoma	Substitution - Missense
c.5437G>A; p.E1813K; 14:95091293-95091293	ovary	carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour	Substitution - Missense
c.4018G>A; p.E1340K; 14:95103378-95103378	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.5437G>A; p.E1813K; 14:95091293-95091293	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5437G>A; p.E1813K; 14:95091293-95091293	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.111T>A; p.I37I; 14:95133348-95133348	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5437G>A; p.E1813K; 14:95091293-95091293	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5437G>A; p.E1813K; 14:95091293-95091293	pituitary	other; blastoma	Substitution - Missense
c.5437G>A; p.E1813K; 14:95091293-95091293	upper_aerodigestive_tract; sinonasal_and_nasal_cavity	other; chondromesenchymal_hamartoma	Substitution - Missense
c.2675T>A; p.I892N; 14:95107737-95107737	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5437G>A; p.E1813K; 14:95091293-95091293	kidney	other; cystic_nephroma	Substitution - Missense
c.4018G>A; p.E1340K; 14:95103378-95103378	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5437G>A; p.E1813K; 14:95091293-95091293	pituitary	other; blastoma	Substitution - Missense
c.442C>G; p.L148V; 14:95130189-95130189	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.734G>A; p.R245K; 14:95129472-95129472	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.925G>T; p.V309L; 14:95124647-95124647	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5517G>T; p.R1839R; 14:95091213-95091213	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2021C>T; p.P674L; 14:95113111-95113111	skin	malignant_melanoma	Substitution - Missense
c.1440T>C; p.T480T; 14:95117691-95117691	skin	malignant_melanoma	Substitution - coding silent
c.3389A>G; p.E1130G; 14:95104007-95104007	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3160C>T; p.L1054F; 14:95105180-95105180	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3279C>G; p.N1093K; 14:95104117-95104117	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3749C>A; p.S1250Y; 14:95103647-95103647	pancreas	carcinoma	Substitution - Missense
c.4081A>C; p.K1361Q; 14:95099905-95099905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4849C>A; p.L1617I; 14:95096071-95096071	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4669A>G; p.K1557E; 14:95096251-95096251	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1570G>T; p.E524*; 14:95116635-95116635	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2062C>T; p.R688*; 14:95112226-95112226	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2062C>T; p.R688*; 14:95112226-95112226	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4797G>T; p.R1599R; 14:95096123-95096123	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4068G>T; p.L1356L; 14:95099918-95099918	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.5426G>T; p.G1809V; 14:95091304-95091304	kidney	Wilms_tumour	Substitution - Missense
c.4206+9_4206+19delGTGTGTGTGTG; p.?; 14:95099761-95099771	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.134G>A; p.R45K; 14:95133325-95133325	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4651G>A; p.E1551K; 14:95096269-95096269	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.5475G>A; p.M1825I; 14:95091255-95091255	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2249C>T; p.P750L; 14:95111324-95111324	skin	malignant_melanoma	Substitution - Missense
c.5718A>C; p.R1906S; 14:95090549-95090549	thyroid	carcinoma	Substitution - Missense
c.1886C>T; p.T629M; 14:95115688-95115688	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4411C>G; p.P1471A; 14:95096509-95096509	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2039T>C; p.V680A; 14:95113093-95113093	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3810G>A; p.V1270V; 14:95103586-95103586	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.5581G>A; p.E1861K; 14:95091056-95091056	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5581G>A; p.E1861K; 14:95091056-95091056	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4774C>T; p.P1592S; 14:95096146-95096146	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1616delT; p.L539fs*23; 14:95116589-95116589	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.5429A>C; p.D1810A; 14:95091301-95091301	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.101A>C; p.Q34P; 14:95133358-95133358	liver	carcinoma	Substitution - Missense
c.4458delA; p.K1486fs*4; 14:95096462-95096462	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.977T>C; p.V326A; 14:95124595-95124595	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2964G>T; p.L988L; 14:95106064-95106064	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.4281G>C; p.L1427L; 14:95096639-95096639	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.602G>A; p.R201H; 14:95129604-95129604	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5407G>A; p.E1803K; 14:95091323-95091323	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1982G>A; p.G661D; 14:95113150-95113150	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3901T>A; p.L1301M; 14:95103495-95103495	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2094C>T; p.C698C; 14:95112194-95112194	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5741C>T; p.A1914V; 14:95090526-95090526	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1174_1175ins10; p.R392fs*3; 14:95124397-95124398	pleura	pulmonary_blastoma	Insertion - Frameshift
c.5127T>A; p.D1709E; 14:95094125-95094125	ovary	germ_cell_tumour; yolk_sac_tumour	Substitution - Missense
c.2796C>T; p.I932I; 14:95107616-95107616	skin	malignant_melanoma	Substitution - coding silent
c.5127T>A; p.D1709E; 14:95094125-95094125	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.1752G>A; p.K584K; 14:95116453-95116453	skin	malignant_melanoma	Substitution - coding silent
c.1938T>C; p.F646F; 14:95113194-95113194	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.396T>C; p.S132S; 14:95131551-95131551	breast	carcinoma	Substitution - coding silent
c.4795C>T; p.R1599W; 14:95096125-95096125	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5127T>A; p.D1709E; 14:95094125-95094125	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.1606C>T; p.R536C; 14:95116599-95116599	NS	malignant_melanoma	Substitution - Missense
c.5495A>G; p.Q1832R; 14:95091235-95091235	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1858G>T; p.D620Y; 14:95115716-95115716	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4698G>C; p.L1566L; 14:95096222-95096222	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1994C>T; p.S665L; 14:95113138-95113138	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5283C>T; p.V1761V; 14:95093969-95093969	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4151G>T; p.G1384V; 14:95099835-95099835	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.824A>C; p.E275A; 14:95126659-95126659	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4014G>A; p.A1338A; 14:95103382-95103382	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.1153C>T; p.R385C; 14:95124419-95124419	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	kidney	other; cystic_nephroma	Substitution - Missense
c.3280_3281delTT; p.L1094fs*9; 14:95104115-95104116	central_nervous_system; pineal_gland	primitive_neuroectodermal_tumour-medulloblastoma; pineoblastoma	Deletion - Frameshift
c.1402G>A; p.D468N; 14:95117729-95117729	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.2019A>C; p.S673S; 14:95113113-95113113	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.389A>G; p.N130S; 14:95131558-95131558	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	kidney	other; cystic_nephroma	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	kidney	Wilms_tumour	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.2948T>C; p.L983P; 14:95106080-95106080	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.1153C>T; p.R385C; 14:95124419-95124419	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	lung	carcinoid-endocrine_tumour; atypical	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>A; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.1510-4delT; p.?; 14:95116699-95116699	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.925G>A; p.V309I; 14:95124647-95124647	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4275G>T; p.E1425D; 14:95096645-95096645	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1506A>G; p.E502E; 14:95117625-95117625	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1506A>G; p.E502E; 14:95117625-95117625	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1506A>G; p.E502E; 14:95117625-95117625	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.144+10C>T; p.?; 14:95133305-95133305	liver	carcinoma	Unknown
c.144+10C>T; p.?; 14:95133305-95133305	liver	carcinoma	Unknown
c.5221A>G; p.N1741D; 14:95094031-95094031	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4514C>T; p.S1505F; 14:95096406-95096406	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1304C>T; p.P435L; 14:95124268-95124268	kidney	Wilms_tumour	Substitution - Missense
c.5221A>G; p.N1741D; 14:95094031-95094031	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3202G>A; p.E1068K; 14:95105138-95105138	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3084G>A; p.Q1028Q; 14:95105687-95105687	breast	carcinoma	Substitution - coding silent
c.1635C>A; p.S545S; 14:95116570-95116570	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5677G>T; p.V1893F; 14:95090590-95090590	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2369G>A; p.R790Q; 14:95108391-95108391	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2369G>A; p.R790Q; 14:95108391-95108391	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2942C>A; p.T981N; 14:95106086-95106086	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5705C>T; p.S1902F; 14:95090562-95090562	skin	malignant_melanoma	Substitution - Missense
c.3179G>A; p.R1060H; 14:95105161-95105161	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4289G>T; p.R1430M; 14:95096631-95096631	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.250C>G; p.Q84E; 14:95132572-95132572	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.250C>G; p.Q84E; 14:95132572-95132572	pancreas	NS	Substitution - Missense
c.1523T>G; p.F508C; 14:95116682-95116682	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.652G>T; p.E218*; 14:95129554-95129554	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1442G>T; p.G481V; 14:95117689-95117689	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5465A>G; p.D1822G; 14:95091265-95091265	kidney	Wilms_tumour	Substitution - Missense
c.2284C>T; p.P762S; 14:95108476-95108476	skin	malignant_melanoma	Substitution - Missense
c.1635C>T; p.S545S; 14:95116570-95116570	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5174G>A; p.R1725Q; 14:95094078-95094078	testis	germ_cell_tumour; seminoma	Substitution - Missense
c.366G>A; p.G122G; 14:95131581-95131581	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5438A>C; p.E1813A; 14:95091292-95091292	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5438A>C; p.E1813A; 14:95091292-95091292	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3776C>T; p.A1259V; 14:95103620-95103620	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.366G>A; p.G122G; 14:95131581-95131581	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5130G>A; p.A1710A; 14:95094122-95094122	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4879G>A; p.A1627T; 14:95096041-95096041	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2111A>C; p.K704T; 14:95112177-95112177	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.559C>T; p.R187*; 14:95130072-95130072	skin	malignant_melanoma	Substitution - Nonsense
c.2612A>G; p.D871G; 14:95107918-95107918	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.5550C>A; p.P1850P; 14:95091087-95091087	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.417_418CC>TT; p.Q140*; 14:95131529-95131530	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1303C>T; p.P435S; 14:95124269-95124269	skin	malignant_melanoma	Substitution - Missense
c.3257C>A; p.P1086H; 14:95105083-95105083	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5439G>C; p.E1813D; 14:95091291-95091291	pleura	pulmonary_blastoma	Substitution - Missense
c.5439G>C; p.E1813D; 14:95091291-95091291	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5439G>C; p.E1813D; 14:95091291-95091291	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5439G>C; p.E1813D; 14:95091291-95091291	pleura	pulmonary_blastoma	Substitution - Missense
c.5439G>C; p.E1813D; 14:95091291-95091291	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.2805-2A>T; p.?; 14:95106225-95106225	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.666G>T; p.K222N; 14:95129540-95129540	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2562C>A; p.F854L; 14:95107968-95107968	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4271A>G; p.E1424G; 14:95096649-95096649	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5428G>A; p.D1810N; 14:95091302-95091302	kidney	Wilms_tumour	Substitution - Missense
c.5428G>A; p.D1810N; 14:95091302-95091302	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.1490A>C; p.E497A; 14:95117641-95117641	breast	carcinoma	Substitution - Missense
c.5428G>A; p.D1810N; 14:95091302-95091302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3187T>G; p.C1063G; 14:95105153-95105153	skin	malignant_melanoma	Substitution - Missense
c.1671C>G; p.I557M; 14:95116534-95116534	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2801C>A; p.P934Q; 14:95107611-95107611	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1553C>T; p.A518V; 14:95116652-95116652	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4956T>C; p.H1652H; 14:95095964-95095964	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2761G>T; p.V921F; 14:95107651-95107651	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.948G>A; p.W316*; 14:95124624-95124624	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4679C>T; p.A1560V; 14:95096241-95096241	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2162_2163delAA; p.K721fs*2; 14:95111410-95111411	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5113G>C; p.E1705Q; 14:95094139-95094139	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5113G>C; p.E1705Q; 14:95094139-95094139	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.864A>G; p.V288V; 14:95126619-95126619	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4820G>A; p.R1607Q; 14:95096100-95096100	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4820G>A; p.R1607Q; 14:95096100-95096100	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5272T>G; p.F1758V; 14:95093980-95093980	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3442C>G; p.Q1148E; 14:95103954-95103954	urinary_tract; bladder	carcinoma	Substitution - Missense
c.114T>C; p.H38H; 14:95133345-95133345	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2229G>A; p.T743T; 14:95111344-95111344	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2229G>A; p.T743T; 14:95111344-95111344	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2222G>T; p.G741V; 14:95111351-95111351	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2978C>T; p.T993I; 14:95106050-95106050	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2229G>A; p.T743T; 14:95111344-95111344	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5724C>A; p.A1908A; 14:95090543-95090543	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1505A>G; p.E502G; 14:95117626-95117626	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1360G>A; p.A454T; 14:95124212-95124212	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3691C>T; p.P1231S; 14:95103705-95103705	skin	malignant_melanoma	Substitution - Missense
c.1504G>A; p.E502K; 14:95117627-95117627	skin	malignant_melanoma	Substitution - Missense
c.5438A>T; p.E1813V; 14:95091292-95091292	pituitary	other; blastoma	Substitution - Missense
c.2416A>G; p.T806A; 14:95108344-95108344	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5438A>T; p.E1813V; 14:95091292-95091292	pituitary	other; blastoma	Substitution - Missense
c.5263C>A; p.H1755N; 14:95093989-95093989	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5225A>G; p.N1742S; 14:95094027-95094027	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3457T>C; p.C1153R; 14:95103939-95103939	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1614T>C; p.D538D; 14:95116591-95116591	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2613C>T; p.D871D; 14:95107917-95107917	pancreas	carcinoma	Substitution - coding silent
c.2830C>T; p.R944*; 14:95106198-95106198	skin	malignant_melanoma	Substitution - Nonsense
c.1755C>A; p.I585I; 14:95115819-95115819	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2922A>G; p.T974T; 14:95106106-95106106	prostate	carcinoma	Substitution - coding silent
c.4128C>A; p.P1376P; 14:95099858-95099858	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3259G>C; p.A1087P; 14:95105081-95105081	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2804G>A; p.R935K; 14:95107608-95107608	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4775C>T; p.P1592L; 14:95096145-95096145	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3583G>A; p.D1195N; 14:95103813-95103813	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4420A>G; p.T1474A; 14:95096500-95096500	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1936T>C; p.F646L; 14:95113196-95113196	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5492G>A; p.W1831*; 14:95091238-95091238	ovary	germ_cell_tumour; yolk_sac_tumour	Substitution - Nonsense
c.5428G>C; p.D1810H; 14:95091302-95091302	kidney	other; cystic_nephroma	Substitution - Missense
c.5428G>C; p.D1810H; 14:95091302-95091302	thyroid	carcinoma	Substitution - Missense
c.3178C>T; p.R1060C; 14:95105162-95105162	skin	malignant_melanoma	Substitution - Missense
c.5428G>C; p.D1810H; 14:95091302-95091302	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5428_5429GA>AG; p.D1810S; 14:95091301-95091302	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.1469G>A; p.R490H; 14:95117662-95117662	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1469G>A; p.R490H; 14:95117662-95117662	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3895C>T; p.Q1299*; 14:95103501-95103501	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.4326C>A; p.F1442L; 14:95096594-95096594	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2210C>T; p.P737L; 14:95111363-95111363	skin	malignant_melanoma	Substitution - Missense
c.5742T>C; p.A1914A; 14:95090525-95090525	pancreas	carcinoma	Substitution - coding silent
c.4529G>A; p.C1510Y; 14:95096391-95096391	breast	carcinoma	Substitution - Missense
c.1637A>G; p.Y546C; 14:95116568-95116568	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.816G>A; p.M272I; 14:95126667-95126667	skin	malignant_melanoma	Substitution - Missense
c.1908-2A>T; p.?; 14:95113226-95113226	urinary_tract; bladder	carcinoma	Unknown
c.5742T>C; p.A1914A; 14:95090525-95090525	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.5439G>T; p.E1813D; 14:95091291-95091291	upper_aerodigestive_tract; sinonasal_and_nasal_cavity	other; chondromesenchymal_hamartoma	Substitution - Missense
c.5439G>T; p.E1813D; 14:95091291-95091291	upper_aerodigestive_tract; sinonasal_and_nasal_cavity	other; chondromesenchymal_hamartoma	Substitution - Missense
c.5552G>A; p.R1851H; 14:95091085-95091085	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5439G>T; p.E1813D; 14:95091291-95091291	pituitary	other; blastoma	Substitution - Missense
c.5439G>T; p.E1813D; 14:95091291-95091291	kidney	other; cystic_nephroma	Substitution - Missense
c.5439G>T; p.E1813D; 14:95091291-95091291	kidney	other; cystic_nephroma	Substitution - Missense
c.5439G>T; p.E1813D; 14:95091291-95091291	kidney	other; cystic_nephroma	Substitution - Missense
c.5439G>T; p.E1813D; 14:95091291-95091291	upper_aerodigestive_tract; sinonasal_and_nasal_cavity	other; chondromesenchymal_hamartoma	Substitution - Missense
c.5439G>T; p.E1813D; 14:95091291-95091291	thyroid	carcinoma; papillary_carcinoma	Substitution - Missense
c.3008G>A; p.R1003Q; 14:95105763-95105763	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5439G>T; p.E1813D; 14:95091291-95091291	kidney	other; cystic_nephroma	Substitution - Missense
c.5439G>T; p.E1813D; 14:95091291-95091291	kidney	other; cystic_nephroma	Substitution - Missense
c.5442G>A; p.S1814S; 14:95091288-95091288	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1749A>T; p.E583D; 14:95116456-95116456	pancreas	carcinoma	Substitution - Missense
c.5428G>T; p.D1810Y; 14:95091302-95091302	pleura	pulmonary_blastoma	Substitution - Missense
c.5428G>T; p.D1810Y; 14:95091302-95091302	pleura	pulmonary_blastoma	Substitution - Missense
c.5428G>T; p.D1810Y; 14:95091302-95091302	ovary	germ_cell_tumour; teratoma	Substitution - Missense
c.5428G>T; p.D1810Y; 14:95091302-95091302	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.5428G>T; p.D1810Y; 14:95091302-95091302	pleura	pulmonary_blastoma	Substitution - Missense
c.5428G>T; p.D1810Y; 14:95091302-95091302	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5428G>T; p.D1810Y; 14:95091302-95091302	pleura	pulmonary_blastoma	Substitution - Missense
c.5428G>T; p.D1810Y; 14:95091302-95091302	pleura	pulmonary_blastoma	Substitution - Missense
c.5428G>T; p.D1810Y; 14:95091302-95091302	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.2439T>C; p.I813I; 14:95108091-95108091	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5428G>T; p.D1810Y; 14:95091302-95091302	pleura	pulmonary_blastoma	Substitution - Missense
c.5428G>T; p.D1810Y; 14:95091302-95091302	ovary	germ_cell_tumour; mixed	Substitution - Missense
c.3094A>G; p.I1032V; 14:95105246-95105246	liver	carcinoma	Substitution - Missense
c.1679A>G; p.Y560C; 14:95116526-95116526	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.255C>G; p.I85M; 14:95132567-95132567	kidney	Wilms_tumour	Substitution - Missense
c.3094A>G; p.I1032V; 14:95105246-95105246	liver	carcinoma	Substitution - Missense
c.5125G>T; p.D1709Y; 14:95094127-95094127	pituitary	other; blastoma	Substitution - Missense
c.5240C>T; p.S1747L; 14:95094012-95094012	breast	carcinoma	Substitution - Missense
c.5240C>T; p.S1747L; 14:95094012-95094012	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.4792G>A; p.D1598N; 14:95096128-95096128	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5365-1G>T; p.?; 14:95091366-95091366	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Unknown
c.4130delC; p.P1377fs*2; 14:95099856-95099856	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5386G>A; p.E1796K; 14:95091344-95091344	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2341T>A; p.L781I; 14:95108419-95108419	liver	carcinoma	Substitution - Missense
c.1132A>T; p.I378F; 14:95124440-95124440	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3238G>A; p.V1080M; 14:95105102-95105102	pancreas	carcinoma	Substitution - Missense
c.3328A>G; p.I1110V; 14:95104068-95104068	kidney	Wilms_tumour	Substitution - Missense
c.743C>G; p.S248C; 14:95126740-95126740	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2341T>A; p.L781I; 14:95108419-95108419	liver	carcinoma	Substitution - Missense
c.1483G>A; p.E495K; 14:95117648-95117648	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1483G>A; p.E495K; 14:95117648-95117648	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1483G>A; p.E495K; 14:95117648-95117648	large_intestine; colon	carcinoma	Substitution - Missense
c.1483G>A; p.E495K; 14:95117648-95117648	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	thyroid	carcinoma; papillary_carcinoma	Substitution - Missense
c.1144G>A; p.E382K; 14:95124428-95124428	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	kidney	Wilms_tumour	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	kidney	other; cystic_nephroma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	pleura	pulmonary_blastoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	pleura	pulmonary_blastoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	testis	germ_cell_tumour; mixed	Substitution - Missense
c.1144G>A; p.E382K; 14:95124428-95124428	liver	carcinoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	pleura	pulmonary_blastoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	pleura	pulmonary_blastoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	pleura	pulmonary_blastoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	pleura	pulmonary_blastoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	testis	germ_cell_tumour; yolk_sac_tumour	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	thyroid	carcinoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	pleura	pulmonary_blastoma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	ovary	germ_cell_tumour; mixed	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	kidney	other; cystic_nephroma	Substitution - Missense
c.5438A>G; p.E1813G; 14:95091292-95091292	kidney	other; cystic_nephroma	Substitution - Missense
c.4603_4604delTG; p.C1535fs*3; 14:95096316-95096317	ovary	carcinoma	Deletion - Frameshift
c.5218G>A; p.V1740I; 14:95094034-95094034	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3991C>G; p.L1331V; 14:95103405-95103405	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.2084C>T; p.A695V; 14:95112204-95112204	breast	carcinoma	Substitution - Missense
c.3245T>G; p.V1082G; 14:95105095-95105095	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.5052C>T; p.L1684L; 14:95095868-95095868	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.5551C>T; p.R1851C; 14:95091086-95091086	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5401G>A; p.D1801N; 14:95091329-95091329	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4296G>A; p.P1432P; 14:95096624-95096624	skin; upper_arm	malignant_melanoma	Substitution - coding silent
c.897G>A; p.S299S; 14:95126586-95126586	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5476T>C; p.S1826P; 14:95091254-95091254	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5186C>T; p.P1729L; 14:95094066-95094066	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4665T>C; p.A1555A; 14:95096255-95096255	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.897G>A; p.S299S; 14:95126586-95126586	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2031C>A; p.A677A; 14:95113101-95113101	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1920A>G; p.R640R; 14:95113212-95113212	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3440A>G; p.D1147G; 14:95103956-95103956	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.5001A>C; p.E1667D; 14:95095919-95095919	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5001A>C; p.E1667D; 14:95095919-95095919	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4072C>T; p.R1358C; 14:95099914-95099914	oesophagus	carcinoma	Substitution - Missense
c.3839G>A; p.S1280N; 14:95103557-95103557	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3261G>A; p.A1087A; 14:95105079-95105079	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2732G>T; p.S911I; 14:95107680-95107680	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.390T>A; p.N130K; 14:95131557-95131557	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.68C>A; p.P23Q; 14:95133391-95133391	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.835A>T; p.N279Y; 14:95126648-95126648	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.1792G>A; p.E598K; 14:95115782-95115782	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4949T>G; p.F1650C; 14:95095971-95095971	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.862G>A; p.V288I; 14:95126621-95126621	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5452G>A; p.A1818T; 14:95091278-95091278	kidney	Wilms_tumour	Substitution - Missense
c.142C>G; p.Q48E; 14:95133317-95133317	kidney	Wilms_tumour	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.3675C>G; p.Y1225*; 14:95103721-95103721	central_nervous_system; pineal_gland	primitive_neuroectodermal_tumour-medulloblastoma; pineoblastoma	Substitution - Nonsense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.982G>T; p.E328*; 14:95124590-95124590	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.2052G>C; p.M684I; 14:95112236-95112236	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.5425G>C; p.G1809R; 14:95091305-95091305	pleura	pulmonary_blastoma	Substitution - Missense
c.2417C>T; p.T806M; 14:95108343-95108343	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5528-1G>C; p.?; 14:95091110-95091110	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Unknown
c.5173C>T; p.R1725W; 14:95094079-95094079	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3704G>A; p.C1235Y; 14:95103692-95103692	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.4073G>A; p.R1358H; 14:95099913-95099913	large_intestine; rectum	NS	Substitution - Missense
c.5429A>T; p.D1810V; 14:95091301-95091301	ovary	sex_cord-stromal_tumour	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	pleura	pulmonary_blastoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	pleura	pulmonary_blastoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	ovary	sex_cord-stromal_tumour	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	pleura	pulmonary_blastoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	pleura	pulmonary_blastoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	pleura	pulmonary_blastoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	kidney	other; cystic_nephroma	Substitution - Missense
c.3607A>T; p.N1203Y; 14:95103789-95103789	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.3821G>T; p.R1274M; 14:95103575-95103575	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	pleura	pulmonary_blastoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	pleura	pulmonary_blastoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	pleura	pulmonary_blastoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	kidney	other; cystic_nephroma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	kidney	other; cystic_nephroma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	thyroid	carcinoma; papillary_carcinoma	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5113G>A; p.E1705K; 14:95094139-95094139	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1216C>T; p.Q406*; 14:95124356-95124356	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5668T>A; p.F1890I; 14:95090599-95090599	liver	carcinoma	Substitution - Missense
c.5668T>A; p.F1890I; 14:95090599-95090599	liver	carcinoma	Substitution - Missense
c.4656G>T; p.Q1552H; 14:95096264-95096264	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3941G>A; p.R1314Q; 14:95103455-95103455	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1334T>G; p.I445S; 14:95124238-95124238	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.184G>A; p.V62I; 14:95132638-95132638	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1525C>T; p.R509*; 14:95116680-95116680	skin	malignant_melanoma	Substitution - Nonsense
c.877A>G; p.R293G; 14:95126606-95126606	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.172C>T; p.H58Y; 14:95132650-95132650	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.288G>A; p.T96T; 14:95132534-95132534	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.3425C>T; p.S1142F; 14:95103971-95103971	skin	malignant_melanoma	Substitution - Missense
c.4446A>C; p.K1482N; 14:95096474-95096474	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2823G>A; p.Q941Q; 14:95106205-95106205	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.132A>G; p.P44P; 14:95133327-95133327	pancreas	carcinoma	Substitution - coding silent
c.1211G>T; p.R404I; 14:95124361-95124361	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2191G>T; p.E731*; 14:95111382-95111382	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2191G>T; p.E731*; 14:95111382-95111382	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3237C>T; p.G1079G; 14:95105103-95105103	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.94T>C; p.W32R; 14:95133365-95133365	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5425G>T; p.G1809W; 14:95091305-95091305	pituitary	other; blastoma	Substitution - Missense
c.5232C>A; p.I1744I; 14:95094020-95094020	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5365_5527del163; p.L1789fs*42; 14:95091203-95091365	kidney	Wilms_tumour	Deletion - Frameshift
c.1772C>G; p.S591C; 14:95115802-95115802	breast	carcinoma	Substitution - Missense
c.1093C>A; p.P365T; 14:95124479-95124479	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.5365_5527del163; p.L1789fs*42; 14:95091203-95091365	ovary	germ_cell_tumour; dysgerminoma	Deletion - Frameshift
c.3555C>T; p.A1185A; 14:95103841-95103841	skin	malignant_melanoma	Substitution - coding silent
c.5365_5527del163; p.L1789fs*42; 14:95091203-95091365	ovary	germ_cell_tumour; dysgerminoma	Deletion - Frameshift
c.5138A>C; p.D1713A; 14:95094114-95094114	kidney	Wilms_tumour	Substitution - Missense
c.911C>T; p.S304L; 14:95124661-95124661	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3972G>A; p.K1324K; 14:95103424-95103424	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2130C>T; p.D710D; 14:95111443-95111443	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3972G>A; p.K1324K; 14:95103424-95103424	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3704G>T; p.C1235F; 14:95103692-95103692	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2831G>A; p.R944Q; 14:95106197-95106197	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4024C>T; p.R1342C; 14:95103372-95103372	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2831G>A; p.R944Q; 14:95106197-95106197	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3116C>T; p.A1039V; 14:95105224-95105224	liver	carcinoma	Substitution - Missense
c.283A>G; p.R95G; 14:95132539-95132539	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5728C>T; p.R1910*; 14:95090539-95090539	liver	carcinoma	Substitution - Nonsense
c.5728C>T; p.R1910*; 14:95090539-95090539	liver	carcinoma	Substitution - Nonsense
c.5728C>T; p.R1910*; 14:95090539-95090539	skin	malignant_melanoma	Substitution - Nonsense
c.5510T>C; p.M1837T; 14:95091220-95091220	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5608G>T; p.A1870S; 14:95090659-95090659	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5114A>C; p.E1705A; 14:95094138-95094138	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4031C>T; p.S1344L; 14:95103365-95103365	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.924C>T; p.A308A; 14:95124648-95124648	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3296A>C; p.K1099T; 14:95104100-95104100	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2033C>T; p.S678F; 14:95113099-95113099	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4031C>T; p.S1344L; 14:95103365-95103365	kidney	Wilms_tumour	Substitution - Missense
c.4031C>T; p.S1344L; 14:95103365-95103365	skin	malignant_melanoma	Substitution - Missense
c.4031C>T; p.S1344L; 14:95103365-95103365	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4031C>T; p.S1344L; 14:95103365-95103365	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2879T>G; p.F960C; 14:95106149-95106149	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.745C>T; p.Q249*; 14:95126738-95126738	skin	malignant_melanoma	Substitution - Nonsense
c.2596G>A; p.E866K; 14:95107934-95107934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4649C>T; p.T1550I; 14:95096271-95096271	skin	malignant_melanoma	Substitution - Missense
c.2614G>A; p.A872T; 14:95107916-95107916	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5114A>T; p.E1705V; 14:95094138-95094138	pleura	pulmonary_blastoma	Substitution - Missense
c.3215C>A; p.A1072D; 14:95105125-95105125	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2432C>A; p.P811H; 14:95108328-95108328	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4417_4418insT; p.S1473fs*4; 14:95096502-95096503	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1022A>C; p.H341P; 14:95124550-95124550	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5463G>A; p.M1821I; 14:95091267-95091267	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4206+8_4206+9insTTGTG; p.?; 14:95099771-95099772	eye; uveal_tract	malignant_melanoma; spindle	Unknown
c.377A>G; p.N126S; 14:95131570-95131570	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.734+1G>A; p.?; 14:95129471-95129471	skin; extremity	malignant_melanoma	Unknown
c.5107C>A; p.R1703S; 14:95094145-95094145	skin	malignant_melanoma	Substitution - Missense
c.1175G>C; p.R392P; 14:95124397-95124397	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5066A>G; p.H1689R; 14:95095854-95095854	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2339C>T; p.P780L; 14:95108421-95108421	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4548A>T; p.K1516N; 14:95096372-95096372	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1102C>G; p.L368V; 14:95124470-95124470	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	pleura	pulmonary_blastoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	germ_cell_tumour; yolk_sac_tumour	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	kidney	other; cystic_nephroma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	pleura	pulmonary_blastoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	pituitary	other; blastoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	kidney	other; cystic_nephroma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	pleura	pulmonary_blastoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	testis	germ_cell_tumour; non_seminoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	pleura	pulmonary_blastoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	pleura	pulmonary_blastoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	kidney	other; cystic_nephroma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.91C>T; p.P31S; 14:95133368-95133368	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	pleura	pulmonary_blastoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.1753-10A>T; p.?; 14:95115831-95115831	kidney	other; neoplasm	Unknown
c.5125G>A; p.D1709N; 14:95094127-95094127	pleura	pulmonary_blastoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	pleura	pulmonary_blastoma	Substitution - Missense
c.5125G>A; p.D1709N; 14:95094127-95094127	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.3339C>T; p.S1113S; 14:95104057-95104057	skin	malignant_melanoma	Substitution - coding silent
c.4018G>C; p.E1340Q; 14:95103378-95103378	breast	carcinoma	Substitution - Missense
c.2330T>C; p.L777S; 14:95108430-95108430	prostate	carcinoma	Substitution - Missense
c.5107C>T; p.R1703C; 14:95094145-95094145	prostate	carcinoma	Substitution - Missense
c.5107C>T; p.R1703C; 14:95094145-95094145	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3116C>A; p.A1039D; 14:95105224-95105224	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1930G>A; p.D644N; 14:95113202-95113202	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3578A>G; p.N1193S; 14:95103818-95103818	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2483C>T; p.S828F; 14:95108047-95108047	skin	malignant_melanoma	Substitution - Missense
c.5094T>C; p.T1698T; 14:95095826-95095826	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5437G>C; p.E1813Q; 14:95091293-95091293	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5437G>C; p.E1813Q; 14:95091293-95091293	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5437G>C; p.E1813Q; 14:95091293-95091293	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5437G>C; p.E1813Q; 14:95091293-95091293	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5437G>C; p.E1813Q; 14:95091293-95091293	ovary	sex_cord-stromal_tumour; Sertoli-Leydig_cell_tumour	Substitution - Missense
c.5437G>C; p.E1813Q; 14:95091293-95091293	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1108C>A; p.L370M; 14:95124464-95124464	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4514C>G; p.S1505C; 14:95096406-95096406	urinary_tract; bladder	carcinoma	Substitution - Missense
c.128C>T; p.T43M; 14:95133331-95133331	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

The somatic mutations from COSMIC database