| Gene information | Literature | Expression | lncRNA | Mutation | Homolog |
Basic Information | |
|---|---|
Gene ID | 1436 |
Name | CSF1R |
Synonymous | colony stimulating factor 1 receptor;CSF1R;colony stimulating factor 1 receptor |
Definition | CD115 antigen|CSF-1 receptor|FMS proto-oncogene|McDonough feline sarcoma viral (v-fms) oncogene homolog|macrophage colony stimulating factor I receptor|macrophage colony-stimulating factor 1 receptor|proto-oncogene c-Fms |
Position | 5q32 |
Gene Type | protein-coding |
COSMIC confirmed somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1807G>T; p.G603C; 5:150061542-150061542 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.1047C>T; p.P349P; 5:150073336-150073336 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.387C>G; p.L129L; 5:150080257-150080257 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.367G>A; p.A123T; 5:150080277-150080277 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.367G>A; p.A123T; 5:150080277-150080277 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.2374G>C; p.A792P; 5:150056287-150056287 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1515C>T; p.A505A; 5:150068326-150068326 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1034A>C; p.H345P; 5:150073349-150073349 |
breast | carcinoma | Substitution - Missense |
c.2763+2T>G; p.?; 5:150054320-150054320 |
breast | carcinoma | Unknown |
c.183C>T; p.Y61Y; 5:150080891-150080891 |
breast | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.183C>T; p.Y61Y; 5:150080891-150080891 |
breast | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.183C>T; p.Y61Y; 5:150080891-150080891 |
breast | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.183C>T; p.Y61Y; 5:150080891-150080891 |
breast | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.1423G>C; p.E475Q; 5:150069960-150069960 |
breast | carcinoma | Substitution - Missense |
c.1236C>T; p.N412N; 5:150070265-150070265 |
breast | carcinoma | Substitution - coding silent |
c.1671G>T; p.E557D; 5:150061805-150061805 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.677C>T; p.A226V; 5:150078164-150078164 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.354C>T; p.F118F; 5:150080290-150080290 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.732C>T; p.L244L; 5:150077433-150077433 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.95T>G; p.V32G; 5:150080979-150080979 |
endometrium | carcinoma | Substitution - Missense |
c.167C>A; p.P56H; 5:150080907-150080907 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1109G>A; p.R370H; 5:150070545-150070545 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.430C>T; p.R144C; 5:150080214-150080214 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.574C>T; p.R192W; 5:150080070-150080070 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.766C>T; p.R256C; 5:150077399-150077399 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2320-2A>G; p.?; 5:150056343-150056343 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.835G>A; p.V279M; 5:150077330-150077330 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.361C>T; p.Q121*; 5:150080283-150080283 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.2905T>A; p.Y969N; 5:150054083-150054083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2905T>A; p.Y969N; 5:150054083-150054083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1614C>G; p.Y538*; 5:150068227-150068227 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2906A>G; p.Y969C; 5:150054082-150054082 |
haematopoietic_and_lymphoid_tissue | other; normal | Substitution - Missense |
c.2906A>G; p.Y969C; 5:150054082-150054082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2906A>G; p.Y969C; 5:150054082-150054082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2906A>G; p.Y969C; 5:150054082-150054082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2906A>G; p.Y969C; 5:150054082-150054082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.2906A>G; p.Y969C; 5:150054082-150054082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2906A>G; p.Y969C; 5:150054082-150054082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2906A>G; p.Y969C; 5:150054082-150054082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2906A>G; p.Y969C; 5:150054082-150054082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2906A>G; p.Y969C; 5:150054082-150054082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2906A>G; p.Y969C; 5:150054082-150054082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2906A>G; p.Y969C; 5:150054082-150054082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2906A>G; p.Y969C; 5:150054082-150054082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.294C>T; p.H98H; 5:150080780-150080780 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2855C>T; p.T952I; 5:150054133-150054133 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.902T>C; p.L301S; 5:150073481-150073481 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2525G>A; p.G842D; 5:150056055-150056055 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.192C>T; p.G64G; 5:150080882-150080882 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2669A>G; p.Q890R; 5:150054416-150054416 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1199_1200insC; p.E403fs*37; 5:150070301-150070302 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Insertion - Frameshift |
c.2906A>T; p.Y969F; 5:150054082-150054082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2906A>T; p.Y969F; 5:150054082-150054082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2906A>T; p.Y969F; 5:150054082-150054082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.902T>A; p.L301*; 5:150073481-150073481 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.953G>A; p.G318E; 5:150073430-150073430 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2519C>A; p.S840Y; 5:150056061-150056061 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2258G>A; p.R753Q; 5:150057348-150057348 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.2907T>G; p.Y969*; 5:150054081-150054081 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2907T>G; p.Y969*; 5:150054081-150054081 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2907T>G; p.Y969*; 5:150054081-150054081 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2709C>T; p.F903F; 5:150054376-150054376 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - coding silent |
c.2073G>C; p.Q691H; 5:150059759-150059759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.903G>Y; p.L301F; 5:150073480-150073480 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.903G>Y; p.L301F; 5:150073480-150073480 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2905T>C; p.Y969H; 5:150054083-150054083 |
haematopoietic_and_lymphoid_tissue | other; normal | Substitution - Missense |
c.2905T>C; p.Y969H; 5:150054083-150054083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2905T>C; p.Y969H; 5:150054083-150054083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.2905T>G; p.Y969D; 5:150054083-150054083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2092G>A; p.D698N; 5:150059740-150059740 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1237G>A; p.G413S; 5:150070264-150070264 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1237G>A; p.G413S; 5:150070264-150070264 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.316C>T; p.R106W; 5:150080328-150080328 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.2907T>A; p.Y969*; 5:150054081-150054081 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.1626+7C>T; p.?; 5:150068208-150068208 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.500C>T; p.A167V; 5:150080144-150080144 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1186C>A; p.L396I; 5:150070468-150070468 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1711T>G; p.Y571D; 5:150061765-150061765 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm | Substitution - Missense |
c.901T>G; p.L301V; 5:150073482-150073482 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1980G>T; p.L660L; 5:150059852-150059852 |
kidney | other; neoplasm | Substitution - coding silent |
c.2112delC; p.E705fs*22; 5:150059720-150059720 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.2112delC; p.E705fs*22; 5:150059720-150059720 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.2112delC; p.E705fs*22; 5:150059720-150059720 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.2112delC; p.E705fs*22; 5:150059720-150059720 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.2112delC; p.E705fs*22; 5:150059720-150059720 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.2112delC; p.E705fs*22; 5:150059720-150059720 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.904A>C; p.N302H; 5:150073479-150073479 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2844T>A; p.S948R; 5:150054144-150054144 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2221+1G>A; p.?; 5:150057503-150057503 |
kidney | other; neoplasm | Unknown |
c.1516C>T; p.H506Y; 5:150068325-150068325 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2258G>T; p.R753L; 5:150057348-150057348 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1879_1881delAAG; p.K627delK; 5:150060950-150060952 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.2211C>A; p.F737L; 5:150057514-150057514 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2008G>A; p.D670N; 5:150059824-150059824 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.181T>C; p.Y61H; 5:150080893-150080893 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1361A>G; p.Y454C; 5:150070022-150070022 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.182A>T; p.Y61F; 5:150080892-150080892 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1447T>G; p.Y483D; 5:150069936-150069936 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2467G>C; p.A823P; 5:150056113-150056113 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.499G>A; p.A167T; 5:150080145-150080145 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2374G>A; p.A792T; 5:150056287-150056287 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1205delC; p.P402fs*3; 5:150070296-150070296 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1692C>T; p.I564I; 5:150061784-150061784 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.412G>A; p.V138I; 5:150080232-150080232 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1108delC; p.R370fs*2; 5:150070546-150070546 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.434G>A; p.G145D; 5:150080210-150080210 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.641G>T; p.R214L; 5:150078200-150078200 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.219C>T; p.N73N; 5:150080855-150080855 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2878G>A; p.A960T; 5:150054110-150054110 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.424C>T; p.R142C; 5:150080220-150080220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.491T>C; p.I164T; 5:150080153-150080153 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2391C>T; p.F797F; 5:150056270-150056270 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.471G>A; p.S157S; 5:150080173-150080173 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2300C>T; p.A767V; 5:150057306-150057306 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.471G>A; p.S157S; 5:150080173-150080173 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.904A>G; p.N302D; 5:150073479-150073479 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.904A>G; p.N302D; 5:150073479-150073479 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.197G>A; p.S66N; 5:150080877-150080877 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2217G>A; p.E739E; 5:150057508-150057508 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.94G>A; p.V32M; 5:150080980-150080980 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1976T>C; p.V659A; 5:150059856-150059856 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.646C>T; p.R216*; 5:150078195-150078195 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.355G>A; p.E119K; 5:150080289-150080289 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1079A>G; p.Y360C; 5:150073304-150073304 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1098C>T; p.L366L; 5:150070556-150070556 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.666C>T; p.I222I; 5:150078175-150078175 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2512G>A; p.V838I; 5:150056068-150056068 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1700C>T; p.T567M; 5:150061776-150061776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.92T>C; p.V31A; 5:150080982-150080982 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1251T>G; p.L417L; 5:150070250-150070250 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2308G>A; p.A770T; 5:150057298-150057298 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2079C>T; p.P693P; 5:150059753-150059753 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2809A>G; p.S937G; 5:150054179-150054179 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2499G>A; p.T833T; 5:150056081-150056081 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1130G>A; p.G377D; 5:150070524-150070524 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1130G>A; p.G377D; 5:150070524-150070524 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.902T>C; p.L301S; 5:150073481-150073481 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.902T>C; p.L301S; 5:150073481-150073481 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.902T>C; p.L301S; 5:150073481-150073481 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1400C>T; p.T467M; 5:150069983-150069983 |
liver | carcinoma | Substitution - Missense |
c.1082G>T; p.R361M; 5:150073301-150073301 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1788G>T; p.V596V; 5:150061561-150061561 |
liver | carcinoma | Substitution - coding silent |
c.2878G>A; p.A960T; 5:150054110-150054110 |
liver | carcinoma | Substitution - Missense |
c.1219A>G; p.I407V; 5:150070282-150070282 |
liver | carcinoma | Substitution - Missense |
c.1219A>G; p.I407V; 5:150070282-150070282 |
liver | carcinoma | Substitution - Missense |
c.833G>A; p.C278Y; 5:150077332-150077332 |
liver | carcinoma | Substitution - Missense |
c.833G>A; p.C278Y; 5:150077332-150077332 |
liver | carcinoma | Substitution - Missense |
c.726C>T; p.T242T; 5:150078115-150078115 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.84T>C; p.P28P; 5:150080990-150080990 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1236C>T; p.N412N; 5:150070265-150070265 |
liver | carcinoma | Substitution - coding silent |
c.326A>G; p.N109S; 5:150080318-150080318 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2701C>T; p.P901S; 5:150054384-150054384 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2853G>T; p.L951L; 5:150054135-150054135 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.41C>A; p.A14D; 5:150086387-150086387 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2878G>A; p.A960T; 5:150054110-150054110 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.286G>A; p.A96T; 5:150080788-150080788 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1518C>A; p.H506Q; 5:150068323-150068323 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2734G>T; p.E912*; 5:150054351-150054351 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1452G>A; p.E484E; 5:150069931-150069931 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2509G>C; p.D837H; 5:150056071-150056071 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1788G>A; p.V596V; 5:150061561-150061561 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2629C>A; p.Q877K; 5:150055262-150055262 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1526C>T; p.P509L; 5:150068315-150068315 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1619A>C; p.Y540S; 5:150068222-150068222 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1697C>T; p.P566L; 5:150061779-150061779 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2071C>A; p.Q691K; 5:150059761-150059761 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2342C>G; p.A781G; 5:150056319-150056319 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2429T>C; p.I810T; 5:150056232-150056232 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1061C>A; p.A354D; 5:150073322-150073322 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.642G>T; p.R214R; 5:150078199-150078199 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.642G>T; p.R214R; 5:150078199-150078199 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.642G>T; p.R214R; 5:150078199-150078199 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.642G>T; p.R214R; 5:150078199-150078199 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.666C>A; p.I222I; 5:150078175-150078175 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1237G>A; p.G413S; 5:150070264-150070264 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1659C>A; p.I553I; 5:150061817-150061817 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.367G>A; p.A123T; 5:150080277-150080277 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.413T>A; p.V138D; 5:150080231-150080231 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2145C>A; p.F715L; 5:150057580-150057580 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1377C>T; p.S459S; 5:150070006-150070006 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2628C>A; p.A876A; 5:150055263-150055263 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1521G>T; p.T507T; 5:150068320-150068320 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1344G>T; p.Q448H; 5:150070039-150070039 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1745T>G; p.L582R; 5:150061731-150061731 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.81C>A; p.V27V; 5:150080993-150080993 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2078C>A; p.P693H; 5:150059754-150059754 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2078C>A; p.P693H; 5:150059754-150059754 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2078C>A; p.P693H; 5:150059754-150059754 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2078C>A; p.P693H; 5:150059754-150059754 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1019G>T; p.G340V; 5:150073364-150073364 |
NS | NS | Substitution - Missense |
c.1649G>A; p.W550*; 5:150061827-150061827 |
NS | malignant_melanoma | Substitution - Nonsense |
c.470C>T; p.S157L; 5:150080174-150080174 |
oesophagus | carcinoma | Substitution - Missense |
c.2269C>T; p.H757Y; 5:150057337-150057337 |
oesophagus | carcinoma | Substitution - Missense |
c.1640A>G; p.Q547R; 5:150061836-150061836 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1867C>T; p.H623Y; 5:150060964-150060964 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.328G>A; p.V110M; 5:150080316-150080316 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2509G>A; p.D837N; 5:150056071-150056071 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2851C>T; p.L951L; 5:150054137-150054137 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2851C>T; p.L951L; 5:150054137-150054137 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.479A>G; p.H160R; 5:150080165-150080165 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2503C>T; p.Q835*; 5:150056077-150056077 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.167C>G; p.P56R; 5:150080907-150080907 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1969+6G>T; p.?; 5:150060856-150060856 |
ovary | other; neoplasm | Unknown |
c.593-8G>A; p.?; 5:150078256-150078256 |
ovary | other; neoplasm | Unknown |
c.835G>A; p.V279M; 5:150077330-150077330 |
pancreas | carcinoma | Substitution - Missense |
c.835G>A; p.V279M; 5:150077330-150077330 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1205_1206insC; p.E403fs*37; 5:150070295-150070296 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.431G>A; p.R144H; 5:150080213-150080213 |
prostate | carcinoma | Substitution - Missense |
c.1024T>C; p.F342L; 5:150073359-150073359 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.110C>T; p.T37M; 5:150080964-150080964 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2129G>A; p.R710H; 5:150059703-150059703 |
prostate | carcinoma | Substitution - Missense |
c.493C>T; p.H165Y; 5:150080151-150080151 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>T; p.H165Y; 5:150080151-150080151 |
skin | malignant_melanoma | Substitution - Missense |
c.2403G>A; p.R801R; 5:150056258-150056258 |
skin | malignant_melanoma | Substitution - coding silent |
c.145G>A; p.E49K; 5:150080929-150080929 |
skin | malignant_melanoma | Substitution - Missense |
c.1230C>T; p.F410F; 5:150070271-150070271 |
skin | malignant_melanoma | Substitution - coding silent |
c.969C>T; p.V323V; 5:150073414-150073414 |
skin | malignant_melanoma | Substitution - coding silent |
c.651G>A; p.G217G; 5:150078190-150078190 |
skin | malignant_melanoma | Substitution - coding silent |
c.441C>T; p.P147P; 5:150080203-150080203 |
skin | malignant_melanoma | Substitution - coding silent |
c.949G>A; p.E317K; 5:150073434-150073434 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1811T>G; p.L604R; 5:150061538-150061538 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.655G>C; p.A219P; 5:150078186-150078186 |
skin | malignant_melanoma | Substitution - Missense |
c.2366G>A; p.G789D; 5:150056295-150056295 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.973G>A; p.V325M; 5:150073410-150073410 |
skin | malignant_melanoma | Substitution - Missense |
c.2084G>A; p.G695E; 5:150059748-150059748 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1628A>T; p.K543M; 5:150061848-150061848 |
skin | malignant_melanoma | Substitution - Missense |
c.472_473CC>TT; p.P158F; 5:150080171-150080172 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.907T>G; p.L303V; 5:150073476-150073476 |
skin | malignant_melanoma | Substitution - Missense |
c.1978C>T; p.L660L; 5:150059854-150059854 |
skin | malignant_melanoma | Substitution - coding silent |
c.1380G>A; p.Q460Q; 5:150070003-150070003 |
skin | malignant_melanoma | Substitution - coding silent |
c.122G>A; p.R41Q; 5:150080952-150080952 |
skin | malignant_melanoma | Substitution - Missense |
c.2625G>A; p.M875I; 5:150055266-150055266 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1737G>A; p.R579R; 5:150061739-150061739 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1737G>A; p.R579R; 5:150061739-150061739 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1645C>T; p.R549C; 5:150061831-150061831 |
skin | malignant_melanoma | Substitution - Missense |
c.921G>A; p.Q307Q; 5:150073462-150073462 |
skin | malignant_melanoma | Substitution - coding silent |
c.1376G>A; p.S459N; 5:150070007-150070007 |
skin | malignant_melanoma | Substitution - Missense |
c.941C>T; p.T314I; 5:150073442-150073442 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.787C>T; p.L263F; 5:150077378-150077378 |
skin | malignant_melanoma | Substitution - Missense |
c.1072G>A; p.D358N; 5:150073311-150073311 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.1108C>T; p.R370C; 5:150070546-150070546 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.666C>T; p.I222I; 5:150078175-150078175 |
skin | malignant_melanoma | Substitution - coding silent |
c.666C>T; p.I222I; 5:150078175-150078175 |
skin | malignant_melanoma | Substitution - coding silent |
c.749C>T; p.S250F; 5:150077416-150077416 |
skin | malignant_melanoma | Substitution - Missense |
c.972G>A; p.M324I; 5:150073411-150073411 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.936G>A; p.E312E; 5:150073447-150073447 |
skin | malignant_melanoma | Substitution - coding silent |
c.1837G>A; p.V613M; 5:150061512-150061512 |
skin | malignant_melanoma | Substitution - Missense |
c.1725G>A; p.W575*; 5:150061751-150061751 |
skin | malignant_melanoma | Substitution - Nonsense |
c.96G>A; p.V32V; 5:150080978-150080978 |
skin | malignant_melanoma | Substitution - coding silent |
c.619C>T; p.L207L; 5:150078222-150078222 |
skin | malignant_melanoma | Substitution - coding silent |
c.54_55GG>AA; p.G19R; 5:150081019-150081020 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.810C>T; p.F270F; 5:150077355-150077355 |
skin | malignant_melanoma | Substitution - coding silent |
c.2509G>A; p.D837N; 5:150056071-150056071 |
skin | malignant_melanoma | Substitution - Missense |
c.2132+1G>A; p.?; 5:150059699-150059699 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1930G>A; p.E644K; 5:150060901-150060901 |
skin | malignant_melanoma | Substitution - Missense |
c.1729T>A; p.F577I; 5:150061747-150061747 |
small_intestine | carcinoid-endocrine_tumour | Substitution - Missense |
c.2897C>T; p.P966L; 5:150054091-150054091 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.926T>C; p.L309P; 5:150073457-150073457 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.685G>A; p.V229I; 5:150078156-150078156 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.864C>T; p.S288S; 5:150077301-150077301 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.613T>G; p.L205V; 5:150078228-150078228 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1510+2T>C; p.?; 5:150069871-150069871 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.286G>A; p.A96T; 5:150080788-150080788 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.310C>A; p.P104T; 5:150080334-150080334 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1539C>A; p.F513L; 5:150068302-150068302 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1622A>C; p.K541T; 5:150068219-150068219 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1701G>A; p.T567T; 5:150061775-150061775 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1470C>T; p.S490S; 5:150069913-150069913 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.378C>A; p.P126P; 5:150080266-150080266 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1530G>A; p.P510P; 5:150068311-150068311 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.367G>A; p.A123T; 5:150080277-150080277 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2129G>A; p.R710H; 5:150059703-150059703 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1579G>A; p.A527T; 5:150068262-150068262 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1593G>C; p.L531L; 5:150068248-150068248 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2527A>C; p.I843L; 5:150056053-150056053 |
thyroid | other; neoplasm | Substitution - Missense |
c.2432T>G; p.V811G; 5:150056229-150056229 |
thyroid | other; neoplasm | Substitution - Missense |
c.726C>T; p.T242T; 5:150078115-150078115 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2751C>T; p.D917D; 5:150054334-150054334 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2142C>T; p.G714G; 5:150057583-150057583 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.181T>C; p.Y61H; 5:150080893-150080893 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2731C>G; p.Q911E; 5:150054354-150054354 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2558T>C; p.L853P; 5:150055333-150055333 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1213A>C; p.S405R; 5:150070288-150070288 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1327G>A; p.E443K; 5:150070056-150070056 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2178G>A; p.M726I; 5:150057547-150057547 |
urinary_tract; bladder | carcinoma | Substitution - Missense |