Entrez Gene

Basic Information
Gene ID	5460
Name	POU5F1

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.600G>T; p.L200L; 6:31165628-31165628	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.941T>C; p.L314P; 6:31164743-31164743	NS	malignant_melanoma	Substitution - Missense
c.27C>T; p.F9F; 6:31170594-31170594	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1036C>A; p.P346T; 6:31164648-31164648	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.627G>T; p.E209D; 6:31165601-31165601	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.738G>T; p.E246D; 6:31165206-31165206	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.417C>G; p.I139M; 6:31166036-31166036	ovary	other; neoplasm	Substitution - Missense
c.335C>G; p.P112R; 6:31170286-31170286	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.405+2C>T; p.?; 6:31170214-31170214	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.231G>A; p.G77G; 6:31170390-31170390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.463C>T; p.Q155*; 6:31165990-31165990	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.75G>A; p.P25P; 6:31170546-31170546	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.503G>A; p.G168E; 6:31165950-31165950	skin	malignant_melanoma	Substitution - Missense
c.332C>T; p.S111F; 6:31170289-31170289	skin	malignant_melanoma	Substitution - Missense
c.495C>T; p.A165A; 6:31165958-31165958	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.18T>C; p.A6A; 6:31170603-31170603	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.18T>C; p.A6A; 6:31170603-31170603	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.755G>T; p.C252F; 6:31165189-31165189	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.399G>A; p.P133P; 6:31170222-31170222	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.304G>A; p.G102R; 6:31170317-31170317	skin	malignant_melanoma	Substitution - Missense
c.291C>T; p.G97G; 6:31170330-31170330	breast	carcinoma	Substitution - coding silent
c.291C>T; p.G97G; 6:31170330-31170330	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.35C>A; p.S12*; 6:31170586-31170586	thyroid	other; neoplasm	Substitution - Nonsense
c.911C>T; p.P304L; 6:31164773-31164773	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.582C>G; p.F194L; 6:31165646-31165646	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.765C>G; p.P255P; 6:31165179-31165179	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.890A>G; p.D297G; 6:31164794-31164794	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.482G>A; p.G161E; 6:31165971-31165971	skin	malignant_melanoma	Substitution - Missense
c.236A>G; p.Q79R; 6:31170385-31170385	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.680T>C; p.V227A; 6:31165264-31165264	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.881_883delAAC; p.Q294delQ; 6:31164801-31164803	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - In frame
c.528G>A; p.G176G; 6:31165700-31165700	skin	malignant_melanoma	Substitution - coding silent
c.1047C>T; p.S349S; 6:31164637-31164637	breast	carcinoma	Substitution - coding silent
c.1047C>T; p.S349S; 6:31164637-31164637	thyroid	other; neoplasm	Substitution - coding silent
c.1047C>T; p.S349S; 6:31164637-31164637	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.468G>C; p.K156N; 6:31165985-31165985	urinary_tract; bladder	carcinoma	Substitution - Missense
c.809A>G; p.E270G; 6:31165135-31165135	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.194delC; p.P65fs*20; 6:31170427-31170427	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.394A>T; p.N132Y; 6:31170227-31170227	skin	malignant_melanoma	Substitution - Missense
c.438C>G; p.L146L; 6:31166015-31166015	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.592T>C; p.C198R; 6:31165636-31165636	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.592T>C; p.C198R; 6:31165636-31165636	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.717C>A; p.N239K; 6:31165227-31165227	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.712G>C; p.E238Q; 6:31165232-31165232	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.562G>C; p.E188Q; 6:31165666-31165666	breast	carcinoma	Substitution - Missense
c.924A>G; p.G308G; 6:31164760-31164760	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.147G>A; p.P49P; 6:31170474-31170474	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.628G>A; p.E210K; 6:31165600-31165600	skin	malignant_melanoma	Substitution - Missense
c.475A>C; p.T159P; 6:31165978-31165978	breast	carcinoma	Substitution - Missense
c.751C>T; p.Q251*; 6:31165193-31165193	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.384G>C; p.K128N; 6:31170237-31170237	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.537C>T; p.F179F; 6:31165691-31165691	thyroid	carcinoma	Substitution - coding silent
c.194_195insC; p.P66fs*3; 6:31170426-31170427	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.428A>T; p.Q143L; 6:31166025-31166025	breast	carcinoma	Substitution - Missense
c.718C>T; p.R240*; 6:31165226-31165226	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense

The somatic mutations from COSMIC database