lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	1565
Symbol	CYP2D6
Synonymous	CPD6\|CYP2D\|CYP2D7AP\|CYP2D7BP\|CYP2D7P2\|CYP2D8P2\|CYP2DL1\|CYPIID6\|P450-DB1\|P450C2D\|P450DB1
Full name	cytochrome P450, family 2, subfamily D, polypeptide 6
Gene description	cytochrome P450 2D6\|cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2\|cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2\|cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogen
Cytoband	22q13.1
Gene type	protein-coding
Synonymous	MIM:124030; HGNC:HGNC:2625; Ensembl:ENSG00000100197; HPRD:00487; Vega:OTTHUMG00000150918

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.375T>C; p.G125G; 22:42128922-42128922	thyroid	other; neoplasm	Substitution - coding silent
c.375T>C; p.G125G; 22:42128922-42128922	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.375T>C; p.G125G; 22:42128922-42128922	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.375T>C; p.G125G; 22:42128922-42128922	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.375T>C; p.G125G; 22:42128922-42128922	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.375T>C; p.G125G; 22:42128922-42128922	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.955G>A; p.V319I; 22:42127512-42127512	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.955G>A; p.V319I; 22:42127512-42127512	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.955G>A; p.V319I; 22:42127512-42127512	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.955G>A; p.V319I; 22:42127512-42127512	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.955G>A; p.V319I; 22:42127512-42127512	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.955G>A; p.V319I; 22:42127512-42127512	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.955G>A; p.V319I; 22:42127512-42127512	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.955G>A; p.V319I; 22:42127512-42127512	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.955G>A; p.V319I; 22:42127512-42127512	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.838_839delGT; p.V280fs*18; 22:42127628-42127629	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.318C>T; p.I106I; 22:42129772-42129772	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.327C>T; p.I109I; 22:42129763-42129763	skin	malignant_melanoma	Substitution - coding silent
c.337G>A; p.G113R; 22:42129753-42129753	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.902A>G; p.H301R; 22:42127565-42127565	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.902A>G; p.H301R; 22:42127565-42127565	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.902A>G; p.H301R; 22:42127565-42127565	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.336C>T; p.F112F; 22:42129754-42129754	pancreas	carcinoma	Substitution - coding silent
c.902A>G; p.H301R; 22:42127565-42127565	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.902A>G; p.H301R; 22:42127565-42127565	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1088G>A; p.R363H; 22:42126925-42126925	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.478G>T; p.E160*; 22:42128819-42128819	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.153C>T; p.F51F; 22:42130639-42130639	skin; shoulder	malignant_melanoma	Substitution - coding silent
c.271C>A; p.L91M; 22:42129819-42129819	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.271C>A; p.L91M; 22:42129819-42129819	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.271C>A; p.L91M; 22:42129819-42129819	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.271C>A; p.L91M; 22:42129819-42129819	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.271C>A; p.L91M; 22:42129819-42129819	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.271C>A; p.L91M; 22:42129819-42129819	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.271C>A; p.L91M; 22:42129819-42129819	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.884A>C; p.E295A; 22:42127583-42127583	liver	carcinoma	Substitution - Missense
c.706G>A; p.E236K; 22:42127968-42127968	breast	carcinoma	Substitution - Missense
c.884A>C; p.E295A; 22:42127583-42127583	liver	carcinoma	Substitution - Missense
c.852C>T; p.I284I; 22:42127615-42127615	liver	carcinoma	Substitution - coding silent
c.356G>A; p.R119H; 22:42128941-42128941	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.888G>A; p.M296I; 22:42127579-42127579	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.832C>T; p.R278C; 22:42127842-42127842	stomach	adenocarcinoma	Substitution - Missense
c.1155C>T; p.F385F; 22:42126858-42126858	breast	carcinoma	Substitution - coding silent
c.1056G>A; p.L352L; 22:42126957-42126957	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.833G>T; p.R278L; 22:42127634-42127634	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	thyroid	other; neoplasm	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	NS	malignant_melanoma	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	thyroid	other; neoplasm	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	parathyroid	adenoma	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	liver	carcinoma	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.833G>T; p.R278L; 22:42127634-42127634	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.560G>T; p.G187V; 22:42128304-42128304	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.922G>A; p.V308M; 22:42127545-42127545	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.421G>A; p.G141R; 22:42128876-42128876	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.263G>A; p.R88H; 22:42129827-42129827	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.572G>A; p.R191H; 22:42128292-42128292	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.572G>A; p.R191H; 22:42128292-42128292	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.572G>A; p.R191H; 22:42128292-42128292	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1069G>A; p.V357I; 22:42126944-42126944	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.930T>C; p.H310H; 22:42127537-42127537	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.930T>C; p.H310H; 22:42127537-42127537	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.930T>C; p.H310H; 22:42127537-42127537	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.328C>T; p.L110L; 22:42129762-42129762	skin	malignant_melanoma	Substitution - coding silent
c.834C>G; p.R278R; 22:42127633-42127633	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.834C>G; p.R278R; 22:42127633-42127633	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.834C>G; p.R278R; 22:42127633-42127633	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.834C>G; p.R278R; 22:42127633-42127633	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.834C>G; p.R278R; 22:42127633-42127633	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1009C>T; p.R337C; 22:42127458-42127458	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.834C>G; p.R278R; 22:42127633-42127633	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.834C>G; p.R278R; 22:42127633-42127633	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.834C>G; p.R278R; 22:42127633-42127633	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.993C>A; p.I331I; 22:42127474-42127474	thyroid	other; neoplasm	Substitution - coding silent
c.994G>A; p.E332K; 22:42127473-42127473	skin	malignant_melanoma	Substitution - Missense
c.954C>T; p.I318I; 22:42127513-42127513	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.497C>T; p.S166L; 22:42128800-42128800	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.124G>A; p.G42R; 22:42130668-42130668	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.124G>A; p.G42R; 22:42130668-42130668	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.414C>T; p.L138L; 22:42128883-42128883	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.961delC; p.L321fs*3; 22:42127506-42127506	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.596A>C; p.Q199P; 22:42128268-42128268	liver	carcinoma	Substitution - Missense
c.699G>A; p.G233G; 22:42127975-42127975	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.554T>A; p.L185Q; 22:42128310-42128310	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.596A>C; p.Q199P; 22:42128268-42128268	liver	carcinoma	Substitution - Missense
c.799C>A; p.L267I; 22:42127875-42127875	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.910T>G; p.Y304D; 22:42127557-42127557	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.964G>A; p.G322S; 22:42127503-42127503	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.964G>A; p.G322S; 22:42127503-42127503	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.964G>A; p.G322S; 22:42127503-42127503	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.964G>A; p.G322S; 22:42127503-42127503	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.964G>A; p.G322S; 22:42127503-42127503	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.964G>A; p.G322S; 22:42127503-42127503	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.964G>A; p.G322S; 22:42127503-42127503	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.964G>A; p.G322S; 22:42127503-42127503	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.964G>A; p.G322S; 22:42127503-42127503	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.964G>A; p.G322S; 22:42127503-42127503	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.686_688delAGA; p.K230delK; 22:42128176-42128178	large_intestine; colon	carcinoma	Deletion - In frame
c.77G>A; p.R26H; 22:42130715-42130715	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.544A>T; p.I182F; 22:42128320-42128320	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.102A>C; p.P34P; 22:42130690-42130690	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.581A>C; p.K194T; 22:42128283-42128283	liver	carcinoma	Substitution - Missense
c.581A>C; p.K194T; 22:42128283-42128283	liver	carcinoma	Substitution - Missense
c.941G>A; p.R314H; 22:42127526-42127526	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.941G>A; p.R314H; 22:42127526-42127526	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.941G>A; p.R314H; 22:42127526-42127526	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.941G>A; p.R314H; 22:42127526-42127526	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.941G>A; p.R314H; 22:42127526-42127526	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1296C>T; p.F432F; 22:42126619-42126619	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.941G>A; p.R314H; 22:42127526-42127526	breast	carcinoma	Substitution - Missense
c.941G>A; p.R314H; 22:42127526-42127526	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.941G>A; p.R314H; 22:42127526-42127526	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.941G>A; p.R314H; 22:42127526-42127526	thyroid	other; neoplasm	Substitution - Missense
c.941G>A; p.R314H; 22:42127526-42127526	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.941G>A; p.R314H; 22:42127526-42127526	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.555G>A; p.L185L; 22:42128309-42128309	liver	carcinoma	Substitution - coding silent
c.504T>C; p.F168F; 22:42128793-42128793	thyroid	other; neoplasm	Substitution - coding silent
c.504T>C; p.F168F; 22:42128793-42128793	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.504T>C; p.F168F; 22:42128793-42128793	thyroid	other; neoplasm	Substitution - coding silent
c.504T>C; p.F168F; 22:42128793-42128793	thyroid	other; neoplasm	Substitution - coding silent
c.504T>C; p.F168F; 22:42128793-42128793	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.504T>C; p.F168F; 22:42128793-42128793	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.504T>C; p.F168F; 22:42128793-42128793	liver	carcinoma	Substitution - coding silent
c.504T>C; p.F168F; 22:42128793-42128793	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.504T>C; p.F168F; 22:42128793-42128793	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1025C>T; p.T342M; 22:42126988-42126988	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.180+7G>C; p.?; 22:42130605-42130605	oesophagus	carcinoma; adenocarcinoma	Unknown
c.82C>T; p.R28C; 22:42130710-42130710	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.82C>T; p.R28C; 22:42130710-42130710	prostate	carcinoma	Substitution - Missense
c.993C>T; p.I331I; 22:42127474-42127474	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.231G>A; p.P77P; 22:42129859-42129859	pancreas	carcinoma	Substitution - coding silent
c.231G>A; p.P77P; 22:42129859-42129859	pancreas	carcinoma	Substitution - coding silent
c.892G>A; p.D298N; 22:42127575-42127575	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.231G>A; p.P77P; 22:42129859-42129859	pancreas	carcinoma	Substitution - coding silent
c.983C>T; p.S328F; 22:42127484-42127484	skin	malignant_melanoma	Substitution - Missense
c.721G>A; p.D241N; 22:42127953-42127953	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.485T>C; p.L162P; 22:42128812-42128812	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.485T>C; p.L162P; 22:42128812-42128812	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.775A>G; p.T259A; 22:42127899-42127899	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.856G>A; p.D286N; 22:42127611-42127611	thyroid	other; neoplasm	Substitution - Missense
c.1336C>T; p.R446C; 22:42126579-42126579	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.281A>G; p.H94R; 22:42129809-42129809	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.281A>G; p.H94R; 22:42129809-42129809	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.281A>G; p.H94R; 22:42129809-42129809	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.281A>G; p.H94R; 22:42129809-42129809	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.281A>G; p.H94R; 22:42129809-42129809	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.281A>G; p.H94R; 22:42129809-42129809	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.281A>G; p.H94R; 22:42129809-42129809	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.281A>G; p.H94R; 22:42129809-42129809	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.432C>T; p.F144F; 22:42128865-42128865	breast	carcinoma	Substitution - coding silent
c.1237T>G; p.F413V; 22:42126678-42126678	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.517C>T; p.L173L; 22:42128347-42128347	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.911A>G; p.Y304C; 22:42127556-42127556	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.911A>G; p.Y304C; 22:42127556-42127556	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.911A>G; p.Y304C; 22:42127556-42127556	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.911A>G; p.Y304C; 22:42127556-42127556	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.911A>G; p.Y304C; 22:42127556-42127556	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.911A>G; p.Y304C; 22:42127556-42127556	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.911A>G; p.Y304C; 22:42127556-42127556	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.652_653insC; p.R218fs*5; 22:42128211-42128212	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.986G>A; p.R329H; 22:42127481-42127481	skin; extremity	malignant_melanoma	Substitution - Missense
c.779C>T; p.S260L; 22:42127895-42127895	skin	malignant_melanoma	Substitution - Missense
c.986G>A; p.R329H; 22:42127481-42127481	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.986G>A; p.R329H; 22:42127481-42127481	urinary_tract; bladder	carcinoma	Substitution - Missense
c.986G>A; p.R329H; 22:42127481-42127481	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.986G>A; p.R329H; 22:42127481-42127481	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1312C>A; p.P438T; 22:42126603-42126603	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.945T>C; p.F315F; 22:42127522-42127522	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation