Entrez Gene

Basic Information
Gene ID	64321
Name	SOX17

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.1015G>A; p.A339T; 8:54459765-54459765	skin	malignant_melanoma	Substitution - Missense
c.289G>A; p.E97K; 8:54458427-54458427	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.517C>T; p.R173C; 8:54459267-54459267	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.118G>A; p.G40R; 8:54458256-54458256	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.121G>A; p.D41N; 8:54458259-54458259	skin	malignant_melanoma	Substitution - Missense
c.240G>A; p.K80K; 8:54458378-54458378	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.240G>A; p.K80K; 8:54458378-54458378	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.808A>T; p.M270L; 8:54459558-54459558	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.323C>T; p.A108V; 8:54459073-54459073	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1222T>C; p.Y408H; 8:54459972-54459972	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.817C>G; p.R273G; 8:54459567-54459567	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.392A>G; p.D131G; 8:54459142-54459142	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.643G>A; p.D215N; 8:54459393-54459393	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.643G>A; p.D215N; 8:54459393-54459393	large_intestine; colon	carcinoma	Substitution - Missense
c.706T>G; p.F236V; 8:54459456-54459456	thyroid	other; neoplasm	Substitution - Missense
c.125T>A; p.M42K; 8:54458263-54458263	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1239C>T; p.D413D; 8:54459989-54459989	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.896C>T; p.A299V; 8:54459646-54459646	pancreas	carcinoma	Substitution - Missense
c.1218_1219insT; p.Y407fs*7; 8:54459968-54459969	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.1176C>T; p.H392H; 8:54459926-54459926	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.49C>A; p.Q17K; 8:54458187-54458187	skin	malignant_melanoma	Substitution - Missense
c.845C>T; p.S282L; 8:54459595-54459595	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1062C>T; p.L354L; 8:54459812-54459812	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.272C>T; p.P91L; 8:54458410-54458410	skin	malignant_melanoma	Substitution - Missense
c.823G>T; p.G275C; 8:54459573-54459573	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.166G>A; p.A56T; 8:54458304-54458304	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.497C>T; p.A166V; 8:54459247-54459247	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.454G>A; p.E152K; 8:54459204-54459204	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.611G>A; p.R204H; 8:54459361-54459361	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.261G>A; p.A87A; 8:54458399-54458399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.412C>A; p.R138R; 8:54459162-54459162	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.995A>G; p.Q332R; 8:54459745-54459745	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.576G>A; p.P192P; 8:54459326-54459326	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.381G>A; p.Q127Q; 8:54459131-54459131	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.379C>T; p.Q127*; 8:54459129-54459129	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1133C>G; p.P378R; 8:54459883-54459883	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1146T>C; p.H382H; 8:54459896-54459896	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.417G>C; p.P139P; 8:54459167-54459167	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.892G>A; p.G298S; 8:54459642-54459642	central_nervous_system; brain	glioma	Substitution - Missense
c.351C>T; p.F117F; 8:54459101-54459101	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1076A>G; p.D359G; 8:54459826-54459826	central_nervous_system; brain	glioma	Substitution - Missense
c.1208G>T; p.S403I; 8:54459958-54459958	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1208G>T; p.S403I; 8:54459958-54459958	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1208G>T; p.S403I; 8:54459958-54459958	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1208G>T; p.S403I; 8:54459958-54459958	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1208G>T; p.S403I; 8:54459958-54459958	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.106C>T; p.L36L; 8:54458244-54458244	central_nervous_system; brain	glioma	Substitution - coding silent
c.421C>A; p.R141R; 8:54459171-54459171	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.645C>T; p.D215D; 8:54459395-54459395	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.111delC; p.I39fs*4; 8:54458249-54458249	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.128A>G; p.K43R; 8:54458266-54458266	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.762G>C; p.A254A; 8:54459512-54459512	ovary	other; neoplasm	Substitution - coding silent
c.212C>A; p.P71Q; 8:54458350-54458350	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.156C>A; p.S52R; 8:54458294-54458294	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.156C>A; p.S52R; 8:54458294-54458294	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.948_949insCACCAG; p.H325_H326insQH; 8:54459698-54459699	oesophagus	carcinoma; adenocarcinoma	Insertion - In frame
c.160G>T; p.A54S; 8:54458298-54458298	pancreas	carcinoma	Substitution - Missense
c.415C>G; p.P139A; 8:54459165-54459165	skin	malignant_melanoma	Substitution - Missense
c.352G>A; p.V118M; 8:54459102-54459102	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.212C>T; p.P71L; 8:54458350-54458350	skin	malignant_melanoma	Substitution - Missense
c.998C>T; p.P333L; 8:54459748-54459748	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.684C>T; p.D228D; 8:54459434-54459434	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1132C>T; p.P378S; 8:54459882-54459882	skin	malignant_melanoma	Substitution - Missense
c.425G>A; p.R142H; 8:54459175-54459175	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.464T>C; p.F155S; 8:54459214-54459214	skin	malignant_melanoma	Substitution - Missense
c.203T>C; p.I68T; 8:54458341-54458341	urinary_tract; bladder	carcinoma	Substitution - Missense
c.220G>A; p.A74T; 8:54458358-54458358	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1033G>T; p.G345C; 8:54459783-54459783	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.237T>C; p.A79A; 8:54458375-54458375	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.99C>T; p.A33A; 8:54458237-54458237	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.272C>A; p.P91Q; 8:54458410-54458410	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1084G>A; p.E362K; 8:54459834-54459834	skin	malignant_melanoma	Substitution - Missense
c.648C>A; p.G216G; 8:54459398-54459398	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.838G>T; p.G280C; 8:54459588-54459588	pancreas	carcinoma	Substitution - Missense
c.508G>T; p.E170*; 8:54459258-54459258	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1054G>T; p.A352S; 8:54459804-54459804	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.711C>T; p.F237F; 8:54459461-54459461	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.982C>A; p.P328T; 8:54459732-54459732	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.413G>A; p.R138Q; 8:54459163-54459163	skin	malignant_melanoma	Substitution - Missense
c.104C>A; p.S35*; 8:54458242-54458242	central_nervous_system; brain	glioma	Substitution - Nonsense
c.1168G>A; p.D390N; 8:54459918-54459918	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1144C>T; p.H382Y; 8:54459894-54459894	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.267G>A; p.Q89Q; 8:54458405-54458405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1213G>A; p.A405T; 8:54459963-54459963	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.182G>A; p.R61Q; 8:54458320-54458320	urinary_tract; bladder	carcinoma	Substitution - Missense
c.182G>A; p.R61Q; 8:54458320-54458320	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.200G>A; p.R67H; 8:54458338-54458338	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.200G>A; p.R67H; 8:54458338-54458338	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.459C>T; p.G153G; 8:54459209-54459209	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.459C>T; p.G153G; 8:54459209-54459209	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.714C>T; p.A238A; 8:54459464-54459464	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.714C>T; p.A238A; 8:54459464-54459464	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1244G>A; p.415; 8:54459994-54459994	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.287C>G; p.A96G; 8:54458425-54458425	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.287C>G; p.A96G; 8:54458425-54458425	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.287C>G; p.A96G; 8:54458425-54458425	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1204G>C; p.A402P; 8:54459954-54459954	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.416C>T; p.P139L; 8:54459166-54459166	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.807C>A; p.P269P; 8:54459557-54459557	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent

The somatic mutations from COSMIC database