General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 23095 |
Name | KIF1B |
Synonymous | kinesin family member 1B;KIF1B;kinesin family member 1B |
Definition | kinesin superfamily protein KIF1B|kinesin-like protein KIF1B |
Position | 1p36.2 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.06. |
The copy number variations for various cancers | Top |
The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
---|---|---|---|
c.3180G>A; p.E1060E; 1:10337429-10337429 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1422A>G; p.G474G; 1:10292092-10292092 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.3318G>A; p.T1106T; 1:10339802-10339802 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4011G>T; p.M1337I; 1:10361022-10361022 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2352_2364del13; p.D785fs*17; 1:10324015-10324027 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3185G>A; p.G1062D; 1:10337434-10337434 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.253G>A; p.A85T; 1:10258562-10258562 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.253G>A; p.A85T; 1:10258562-10258562 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3698C>A; p.P1233H; 1:10347799-10347799 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.873G>T; p.K291N; 1:10275436-10275436 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.186C>T; p.P62P; 1:10258495-10258495 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1296G>A; p.K432K; 1:10282533-10282533 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.4448C>T; p.S1483L; 1:10365482-10365482 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3995G>T; p.G1332V; 1:10361006-10361006 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3820C>T; p.R1274W; 1:10352639-10352639 |
breast | carcinoma | Substitution - Missense |
c.3820C>T; p.R1274W; 1:10352639-10352639 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.3820C>T; p.R1274W; 1:10352639-10352639 |
breast | carcinoma | Substitution - Missense |
c.1640-2A>T; p.?; 1:10296580-10296580 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.1640-2A>T; p.?; 1:10296580-10296580 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.1694G>A; p.R565K; 1:10296636-10296636 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2691C>T; p.A897A; 1:10326264-10326264 |
skin | malignant_melanoma | Substitution - coding silent |
c.1855G>A; p.E619K; 1:10297028-10297028 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.833T>G; p.L278W; 1:10272275-10272275 |
skin | malignant_melanoma | Substitution - Missense |
c.326G>T; p.G109V; 1:10258635-10258635 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3908A>G; p.N1303S; 1:10352727-10352727 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2489G>A; p.G830D; 1:10324847-10324847 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3737G>A; p.R1246Q; 1:10348659-10348659 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5298C>G; p.S1766R; 1:10376572-10376572 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.895C>T; p.P299S; 1:10275458-10275458 |
skin | malignant_melanoma | Substitution - Missense |
c.895C>T; p.P299S; 1:10275458-10275458 |
skin | malignant_melanoma | Substitution - Missense |
c.1639+10C>T; p.?; 1:10295776-10295776 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.4711C>T; p.R1571W; 1:10371165-10371165 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4252A>T; p.I1418F; 1:10365123-10365123 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.88A>G; p.M30V; 1:10232416-10232416 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2327G>A; p.R776H; 1:10323990-10323990 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3911C>G; p.S1304C; 1:10352730-10352730 |
breast | carcinoma | Substitution - Missense |
c.3918-1G>T; p.?; 1:10360928-10360928 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.920G>A; p.W307*; 1:10275483-10275483 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1880A>G; p.D627G; 1:10297053-10297053 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2992-10delT; p.?; 1:10337064-10337064 |
skin | malignant_melanoma | Unknown |
c.2297delA; p.T768fs*12; 1:10323960-10323960 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2881C>T; p.R961C; 1:10334614-10334614 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.4144G>A; p.G1382S; 1:10361803-10361803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2638G>A; p.E880K; 1:10326211-10326211 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2638G>A; p.E880K; 1:10326211-10326211 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1298A>C; p.E433A; 1:10291083-10291083 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.4691C>T; p.S1564F; 1:10371145-10371145 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.4117C>T; p.R1373C; 1:10361776-10361776 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.206C>T; p.S69F; 1:10258515-10258515 |
breast | carcinoma | Substitution - Missense |
c.3505C>T; p.P1169S; 1:10343242-10343242 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2024G>A; p.R675Q; 1:10320089-10320089 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3514C>T; p.R1172*; 1:10343251-10343251 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.2024G>A; p.R675Q; 1:10320089-10320089 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.865-1G>C; p.?; 1:10275427-10275427 |
urinary_tract; bladder | carcinoma | Unknown |
c.3372G>A; p.Q1124Q; 1:10339856-10339856 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3372G>A; p.Q1124Q; 1:10339856-10339856 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2593C>T; p.P865S; 1:10326166-10326166 |
skin | malignant_melanoma | Substitution - Missense |
c.3944G>T; p.W1315L; 1:10360955-10360955 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.4842C>A; p.P1614P; 1:10374349-10374349 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4671C>T; p.S1557S; 1:10368523-10368523 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.123G>T; p.K41N; 1:10256263-10256263 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3507G>A; p.P1169P; 1:10343244-10343244 |
liver | carcinoma | Substitution - coding silent |
c.3507G>A; p.P1169P; 1:10343244-10343244 |
liver | carcinoma | Substitution - coding silent |
c.3292C>T; p.H1098Y; 1:10339776-10339776 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3040G>A; p.E1014K; 1:10337122-10337122 |
breast | carcinoma | Substitution - Missense |
c.701C>A; p.T234N; 1:10268244-10268244 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3146A>G; p.D1049G; 1:10337395-10337395 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.983C>T; p.A328V; 1:10276363-10276363 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1086G>T; p.L362L; 1:10278052-10278052 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5051T>A; p.V1684D; 1:10374946-10374946 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.285C>G; p.A95A; 1:10258594-10258594 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.285C>G; p.A95A; 1:10258594-10258594 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5051T>A; p.V1684D; 1:10374946-10374946 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.285C>G; p.A95A; 1:10258594-10258594 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.139C>T; p.P47S; 1:10256279-10256279 |
skin | malignant_melanoma | Substitution - Missense |
c.719A>T; p.K240M; 1:10268262-10268262 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.1888C>G; p.Q630E; 1:10297061-10297061 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1542A>G; p.Q514Q; 1:10295669-10295669 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - coding silent |
c.1819C>T; p.P607S; 1:10296992-10296992 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.85C>T; p.Q29*; 1:10232413-10232413 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2848G>A; p.V950I; 1:10334581-10334581 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3712delT; p.L1239fs*12; 1:10347813-10347813 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4666G>A; p.G1556S; 1:10368518-10368518 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1297G>A; p.E433K; 1:10291082-10291082 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.96C>T; p.G32G; 1:10232424-10232424 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3002C>T; p.S1001L; 1:10337084-10337084 |
skin | malignant_melanoma | Substitution - Missense |
c.3396A>C; p.E1132D; 1:10342070-10342070 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1830T>C; p.P610P; 1:10297003-10297003 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5271-4A>C; p.?; 1:10376541-10376541 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.3002C>T; p.S1001L; 1:10337084-10337084 |
skin | malignant_melanoma | Substitution - Missense |
c.4575C>T; p.I1525I; 1:10365609-10365609 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5271-4A>C; p.?; 1:10376541-10376541 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1191A>G; p.P397P; 1:10282428-10282428 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1711C>G; p.Q571E; 1:10296653-10296653 |
breast | carcinoma | Substitution - Missense |
c.4525G>C; p.E1509Q; 1:10365559-10365559 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3107G>A; p.R1036Q; 1:10337189-10337189 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3107G>A; p.R1036Q; 1:10337189-10337189 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3317C>T; p.T1106M; 1:10339801-10339801 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2384C>A; p.S795Y; 1:10324047-10324047 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1713G>A; p.Q571Q; 1:10296655-10296655 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.220T>A; p.Y74N; 1:10258529-10258529 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2710G>T; p.E904*; 1:10326283-10326283 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.3010G>T; p.A1004S; 1:10337092-10337092 |
thyroid | other; neoplasm | Substitution - Missense |
c.4233G>A; p.M1411I; 1:10365104-10365104 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4167G>T; p.S1389S; 1:10363283-10363283 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5285G>A; p.R1762H; 1:10376559-10376559 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3285C>T; p.N1095N; 1:10339769-10339769 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.3285C>T; p.N1095N; 1:10339769-10339769 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.5285G>A; p.R1762H; 1:10376559-10376559 |
stomach | adenocarcinoma | Substitution - Missense |
c.227A>G; p.D76G; 1:10258536-10258536 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.306A>G; p.G102G; 1:10258615-10258615 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2701G>A; p.A901T; 1:10326274-10326274 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.227A>G; p.D76G; 1:10258536-10258536 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2680G>A; p.V894M; 1:10326253-10326253 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1223T>C; p.L408S; 1:10282460-10282460 |
liver | carcinoma | Substitution - Missense |
c.1198T>A; p.C400S; 1:10282435-10282435 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.3350C>T; p.P1117L; 1:10339834-10339834 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4020G>A; p.S1340S; 1:10361031-10361031 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4020G>A; p.S1340S; 1:10361031-10361031 |
prostate | carcinoma | Substitution - coding silent |
c.654C>T; p.H218H; 1:10268197-10268197 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.3399A>G; p.S1133S; 1:10342073-10342073 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.980C>T; p.P327L; 1:10276360-10276360 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2149C>T; p.R717W; 1:10321786-10321786 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.146C>T; p.S49F; 1:10256286-10256286 |
skin | malignant_melanoma | Substitution - Missense |
c.5304G>A; p.S1768S; 1:10376578-10376578 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.146C>T; p.S49F; 1:10256286-10256286 |
skin | malignant_melanoma | Substitution - Missense |
c.2464G>T; p.D822Y; 1:10324822-10324822 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4600G>A; p.E1534K; 1:10365634-10365634 |
skin | malignant_melanoma | Substitution - Missense |
c.4313G>T; p.R1438L; 1:10365184-10365184 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.226G>T; p.D76Y; 1:10258535-10258535 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4759T>C; p.S1587P; 1:10371213-10371213 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5227G>A; p.D1743N; 1:10375330-10375330 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4672G>A; p.V1558I; 1:10368524-10368524 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3410A>G; p.Y1137C; 1:10342084-10342084 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.3812-1G>A; p.?; 1:10352630-10352630 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Unknown |
c.997G>A; p.D333N; 1:10276377-10276377 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3551-2A>C; p.?; 1:10345843-10345843 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.339A>C; p.E113D; 1:10258648-10258648 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2494G>A; p.D832N; 1:10324852-10324852 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2689G>A; p.A897T; 1:10326262-10326262 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4313G>A; p.R1438H; 1:10365184-10365184 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2558G>T; p.C853F; 1:10326131-10326131 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2558G>T; p.C853F; 1:10326131-10326131 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2510G>A; p.R837Q; 1:10324868-10324868 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4548G>C; p.E1516D; 1:10365582-10365582 |
breast | carcinoma | Substitution - Missense |
c.127C>T; p.P43S; 1:10256267-10256267 |
skin | malignant_melanoma | Substitution - Missense |
c.4236G>A; p.Q1412Q; 1:10365107-10365107 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2902G>A; p.A968T; 1:10334635-10334635 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4525G>A; p.E1509K; 1:10365559-10365559 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3697C>T; p.P1233S; 1:10347798-10347798 |
NS | malignant_melanoma | Substitution - Missense |
c.5206C>A; p.L1736I; 1:10375309-10375309 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4166C>T; p.S1389L; 1:10361825-10361825 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1055C>T; p.A352V; 1:10278021-10278021 |
breast | carcinoma | Substitution - Missense |
c.3773G>C; p.S1258T; 1:10348695-10348695 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5266A>G; p.I1756V; 1:10375369-10375369 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1569A>T; p.I523I; 1:10295696-10295696 |
breast | carcinoma | Substitution - coding silent |
c.2344G>A; p.E782K; 1:10324007-10324007 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4561G>A; p.D1521N; 1:10365595-10365595 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3013A>G; p.M1005V; 1:10337095-10337095 |
thyroid | carcinoma | Substitution - Missense |
c.2322C>T; p.F774F; 1:10323985-10323985 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.709T>C; p.S237P; 1:10268252-10268252 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2179C>T; p.L727L; 1:10321816-10321816 |
skin | malignant_melanoma | Substitution - coding silent |
c.2754C>T; p.Y918Y; 1:10326327-10326327 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1995G>A; p.L665L; 1:10320060-10320060 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3902C>T; p.S1301F; 1:10352721-10352721 |
skin | malignant_melanoma | Substitution - Missense |
c.4055C>T; p.A1352V; 1:10361714-10361714 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3599G>A; p.S1200N; 1:10345893-10345893 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1899G>T; p.E633D; 1:10297072-10297072 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1398G>A; p.M466I; 1:10292068-10292068 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5272T>G; p.S1758A; 1:10376546-10376546 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5272T>G; p.S1758A; 1:10376546-10376546 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4176C>A; p.V1392V; 1:10363292-10363292 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3618C>T; p.L1206L; 1:10345912-10345912 |
skin | malignant_melanoma | Substitution - coding silent |
c.4531G>A; p.A1511T; 1:10365565-10365565 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2920C>T; p.P974S; 1:10336671-10336671 |
skin | malignant_melanoma | Substitution - Missense |
c.1187C>T; p.S396F; 1:10282424-10282424 |
skin | malignant_melanoma | Substitution - Missense |
c.3774C>T; p.S1258S; 1:10348696-10348696 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3774C>T; p.S1258S; 1:10348696-10348696 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.987T>C; p.D329D; 1:10276367-10276367 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1308G>A; p.K436K; 1:10291093-10291093 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5269C>T; p.R1757W; 1:10375372-10375372 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5269C>T; p.R1757W; 1:10375372-10375372 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1308G>A; p.K436K; 1:10291093-10291093 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.2569C>T; p.R857C; 1:10326142-10326142 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3934G>C; p.E1312Q; 1:10360945-10360945 |
breast | carcinoma | Substitution - Missense |
c.2569C>T; p.R857C; 1:10326142-10326142 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2569C>T; p.R857C; 1:10326142-10326142 |
large_intestine | adenoma | Substitution - Missense |
c.2060A>C; p.E687A; 1:10320125-10320125 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3308C>A; p.A1103E; 1:10339792-10339792 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1771C>T; p.P591S; 1:10296944-10296944 |
skin | malignant_melanoma | Substitution - Missense |
c.1568T>C; p.I523T; 1:10295695-10295695 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.419A>G; p.Y140C; 1:10261960-10261960 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1568T>C; p.I523T; 1:10295695-10295695 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5136G>A; p.Q1712Q; 1:10375031-10375031 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.656C>T; p.A219V; 1:10268199-10268199 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.816T>C; p.N272N; 1:10272258-10272258 |
breast | carcinoma | Substitution - coding silent |
c.2079G>T; p.W693C; 1:10321716-10321716 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2251A>G; p.T751A; 1:10323914-10323914 |
skin | malignant_melanoma | Substitution - Missense |
c.4959-7delT; p.?; 1:10374847-10374847 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.2172C>T; p.A724A; 1:10321809-10321809 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1475A>G; p.N492S; 1:10295108-10295108 |
liver | carcinoma | Substitution - Missense |
c.4945G>T; p.E1649*; 1:10374452-10374452 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.4475delC; p.L1493fs*101; 1:10365509-10365509 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.4161A>G; p.P1387P; 1:10361820-10361820 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1034C>T; p.A345V; 1:10278000-10278000 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2890G>A; p.V964I; 1:10334623-10334623 |
thyroid | carcinoma | Substitution - Missense |
c.4280G>A; p.R1427Q; 1:10365151-10365151 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2866G>A; p.V956M; 1:10334599-10334599 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4219G>T; p.G1407C; 1:10363335-10363335 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2623A>G; p.T875A; 1:10326196-10326196 |
breast | carcinoma | Substitution - Missense |
c.3502C>T; p.Q1168*; 1:10343239-10343239 |
skin | malignant_melanoma | Substitution - Nonsense |
c.4714G>T; p.D1572Y; 1:10371168-10371168 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5163C>A; p.T1721T; 1:10375266-10375266 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2923G>A; p.D975N; 1:10336674-10336674 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4663C>T; p.H1555Y; 1:10368515-10368515 |
large_intestine; colon | adenoma | Substitution - Missense |
c.5163C>A; p.T1721T; 1:10375266-10375266 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5163C>A; p.T1721T; 1:10375266-10375266 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.3167G>T; p.G1056V; 1:10337416-10337416 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.125A>T; p.N42I; 1:10256265-10256265 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.953G>C; p.R318P; 1:10276333-10276333 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4123C>G; p.L1375V; 1:10361782-10361782 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1579G>T; p.G527W; 1:10295706-10295706 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4440G>A; p.L1480L; 1:10365474-10365474 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2709G>T; p.T903T; 1:10326282-10326282 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3841G>A; p.E1281K; 1:10352660-10352660 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4769C>T; p.P1590L; 1:10371223-10371223 |
skin | malignant_melanoma | Substitution - Missense |
c.4440G>A; p.L1480L; 1:10365474-10365474 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.4784C>G; p.S1595C; 1:10371238-10371238 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5295G>A; p.P1765P; 1:10376569-10376569 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.458G>C; p.R153T; 1:10267408-10267408 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1239T>C; p.S413S; 1:10282476-10282476 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4384A>C; p.T1462P; 1:10365418-10365418 |
thyroid | other; neoplasm | Substitution - Missense |
c.2044A>G; p.T682A; 1:10320109-10320109 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3726G>A; p.Q1242Q; 1:10347827-10347827 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2871G>A; p.R957R; 1:10334604-10334604 |
skin | malignant_melanoma | Substitution - coding silent |
c.5241C>T; p.A1747A; 1:10375344-10375344 |
skin | malignant_melanoma | Substitution - coding silent |
c.4191A>G; p.E1397E; 1:10363307-10363307 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4406G>A; p.R1469H; 1:10365440-10365440 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2349C>G; p.V783V; 1:10324012-10324012 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3721C>T; p.H1241Y; 1:10347822-10347822 |
thyroid | other; neoplasm | Substitution - Missense |
c.4464C>T; p.L1488L; 1:10365498-10365498 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4942G>C; p.E1648Q; 1:10374449-10374449 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.338A>C; p.E113A; 1:10258647-10258647 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.504G>A; p.V168V; 1:10267454-10267454 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1910A>T; p.Q637L; 1:10297179-10297179 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.504G>A; p.V168V; 1:10267454-10267454 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3050T>C; p.I1017T; 1:10337132-10337132 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5037_5038CC>TT; p.R1680C; 1:10374932-10374933 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.380T>G; p.F127C; 1:10261921-10261921 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.617C>A; p.A206E; 1:10268160-10268160 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4826C>T; p.S1609F; 1:10374333-10374333 |
skin | malignant_melanoma | Substitution - Missense |
c.93A>G; p.Q31Q; 1:10232421-10232421 |
liver | carcinoma | Substitution - coding silent |
c.350G>A; p.G117D; 1:10258659-10258659 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2116C>T; p.R706W; 1:10321753-10321753 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4113A>T; p.P1371P; 1:10361772-10361772 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.416C>G; p.S139C; 1:10261957-10261957 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4753C>A; p.P1585T; 1:10371207-10371207 |
skin | malignant_melanoma | Substitution - Missense |
c.2854G>C; p.E952Q; 1:10334587-10334587 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2747C>T; p.P916L; 1:10326320-10326320 |
skin | malignant_melanoma | Substitution - Missense |
c.3189C>T; p.N1063N; 1:10337438-10337438 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5152-2A>C; p.?; 1:10375253-10375253 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.3608A>C; p.K1203T; 1:10345902-10345902 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2748G>A; p.P916P; 1:10326321-10326321 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3296G>A; p.R1099H; 1:10339780-10339780 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3094G>A; p.E1032K; 1:10337176-10337176 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.970G>T; p.A324S; 1:10276350-10276350 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2420G>A; p.R807Q; 1:10324778-10324778 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.984G>T; p.A328A; 1:10276364-10276364 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.499C>T; p.R167C; 1:10267449-10267449 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.622A>G; p.T208A; 1:10268165-10268165 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4039C>T; p.H1347Y; 1:10361698-10361698 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2747C>G; p.P916R; 1:10326320-10326320 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.2374C>T; p.H792Y; 1:10324037-10324037 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4957A>C; p.S1653R; 1:10374464-10374464 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4387C>A; p.R1463S; 1:10365421-10365421 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2272C>T; p.P758S; 1:10323935-10323935 |
skin | malignant_melanoma | Substitution - Missense |
c.2737G>A; p.G913R; 1:10326310-10326310 |
pancreas | carcinoma | Substitution - Missense |
c.2610C>T; p.A870A; 1:10326183-10326183 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2737G>A; p.G913R; 1:10326310-10326310 |
pancreas | carcinoma | Substitution - Missense |
c.4374+2T>C; p.?; 1:10365247-10365247 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.3814C>T; p.R1272C; 1:10352633-10352633 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.4439T>C; p.L1480P; 1:10365473-10365473 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2821G>A; p.V941M; 1:10334554-10334554 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3830C>A; p.P1277H; 1:10352649-10352649 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4189G>A; p.E1397K; 1:10363305-10363305 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3376-5T>A; p.?; 1:10342045-10342045 |
liver | carcinoma | Unknown |
c.3376-5T>A; p.?; 1:10342045-10342045 |
liver | carcinoma | Unknown |
c.4189G>A; p.E1397K; 1:10363305-10363305 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2733_2741delTGACGGGCA; p.G913_D915delGHD; 1:10326306-10326314 |
pancreas | carcinoma; ductal_carcinoma | Deletion - In frame |
c.924C>T; p.L308L; 1:10275487-10275487 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3542C>A; p.S1181Y; 1:10343279-10343279 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2616C>T; p.S872S; 1:10326189-10326189 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5042G>T; p.R1681L; 1:10374937-10374937 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1730G>A; p.R577H; 1:10296903-10296903 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3327C>T; p.L1109L; 1:10339811-10339811 |
skin | malignant_melanoma | Substitution - coding silent |
c.2606C>T; p.T869M; 1:10326179-10326179 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.4567G>C; p.G1523R; 1:10365601-10365601 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2316G>T; p.R772S; 1:10323979-10323979 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2606C>T; p.T869M; 1:10326179-10326179 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1644C>T; p.I548I; 1:10296586-10296586 |
skin | malignant_melanoma | Substitution - coding silent |
c.4242G>A; p.R1414R; 1:10365113-10365113 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1838G>T; p.W613L; 1:10297011-10297011 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.45C>T; p.F15F; 1:10232373-10232373 |
pancreas | carcinoma | Substitution - coding silent |
c.5303C>T; p.S1768L; 1:10376577-10376577 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1652T>G; p.L551*; 1:10296594-10296594 |
prostate | carcinoma | Substitution - Nonsense |
c.190G>A; p.D64N; 1:10258499-10258499 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2727C>G; p.L909L; 1:10326300-10326300 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4984C>A; p.L1662I; 1:10374879-10374879 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3623T>C; p.V1208A; 1:10345917-10345917 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2472C>T; p.S824S; 1:10324830-10324830 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1259C>G; p.S420C; 1:10282496-10282496 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.552G>A; p.L184L; 1:10267502-10267502 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4275T>A; p.Y1425*; 1:10365146-10365146 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |