General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 28996 |
Name | HIPK2 |
Synonymous | homeodomain interacting protein kinase 2;HIPK2;homeodomain interacting protein kinase 2 |
Definition | hHIPk2|homeodomain-interacting protein kinase 2 |
Position | 7q34 |
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 0.07. |
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.2781C>T; p.S927S; 7:139584001-139584001 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1945G>C; p.D649H; 7:139614331-139614331 |
breast | carcinoma | Substitution - Missense |
c.2633C>T; p.P878L; 7:139596801-139596801 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3540C>G; p.T1180T; 7:139572984-139572984 |
breast | carcinoma | Substitution - coding silent |
c.3464C>T; p.S1155L; 7:139573060-139573060 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2581G>C; p.D861H; 7:139596853-139596853 |
liver | carcinoma | Substitution - Missense |
c.3584A>G; p.Y1195C; 7:139572940-139572940 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3216C>T; p.S1072S; 7:139573308-139573308 |
skin | malignant_melanoma | Substitution - coding silent |
c.925G>T; p.A309S; 7:139716110-139716110 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.481G>T; p.A161S; 7:139716554-139716554 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1597C>T; p.L533F; 7:139626623-139626623 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3210G>T; p.P1070P; 7:139573314-139573314 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.2220G>C; p.E740D; 7:139604116-139604116 |
breast | carcinoma | Substitution - Missense |
c.1309C>T; p.R437C; 7:139631203-139631203 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3123C>G; p.S1041R; 7:139575131-139575131 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1867T>G; p.S623A; 7:139614409-139614409 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.324delC; p.G109fs*6; 7:139716711-139716711 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.3198G>A; p.M1066I; 7:139573326-139573326 |
skin | malignant_melanoma | Substitution - Missense |
c.1807A>G; p.I603V; 7:139614469-139614469 |
liver | carcinoma | Substitution - Missense |
c.1807A>G; p.I603V; 7:139614469-139614469 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1496A>G; p.E499G; 7:139626724-139626724 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1500C>T; p.F500F; 7:139626720-139626720 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1103+8C>T; p.?; 7:139715924-139715924 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1103+8C>T; p.?; 7:139715924-139715924 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.2912C>T; p.P971L; 7:139583870-139583870 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3031G>T; p.G1011C; 7:139575223-139575223 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.538A>T; p.S180C; 7:139716497-139716497 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1064A>C; p.K355T; 7:139715971-139715971 |
liver | carcinoma | Substitution - Missense |
c.1064A>C; p.K355T; 7:139715971-139715971 |
liver | carcinoma | Substitution - Missense |
c.1782G>A; p.Q594Q; 7:139620401-139620401 |
breast | carcinoma | Substitution - coding silent |
c.3405C>A; p.A1135A; 7:139573119-139573119 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1657C>T; p.R553C; 7:139620526-139620526 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.518C>T; p.S173F; 7:139716517-139716517 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.890C>T; p.P297L; 7:139716145-139716145 |
skin | malignant_melanoma | Substitution - Missense |
c.2523C>T; p.R841R; 7:139596911-139596911 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1490G>A; p.R497Q; 7:139626730-139626730 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1493G>A; p.R498Q; 7:139626727-139626727 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.437T>C; p.I146T; 7:139716598-139716598 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2364C>T; p.A788A; 7:139600488-139600488 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2810C>T; p.S937F; 7:139583972-139583972 |
skin | malignant_melanoma | Substitution - Missense |
c.2776T>C; p.Y926H; 7:139584006-139584006 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1871C>T; p.A624V; 7:139614405-139614405 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2661C>T; p.V887V; 7:139596773-139596773 |
skin | malignant_melanoma | Substitution - coding silent |
c.1811C>T; p.S604F; 7:139614465-139614465 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1811C>T; p.S604F; 7:139614465-139614465 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.504G>A; p.T168T; 7:139716531-139716531 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2112+3A>G; p.?; 7:139613199-139613199 |
liver | carcinoma | Unknown |
c.620G>A; p.R207Q; 7:139716415-139716415 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2112+3A>G; p.?; 7:139613199-139613199 |
liver | carcinoma | Unknown |
c.3411A>G; p.P1137P; 7:139573113-139573113 |
breast | carcinoma | Substitution - coding silent |
c.2267C>T; p.A756V; 7:139600585-139600585 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2823T>C; p.R941R; 7:139583959-139583959 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2912C>A; p.P971H; 7:139583870-139583870 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1046C>T; p.S349L; 7:139715989-139715989 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2823T>C; p.R941R; 7:139583959-139583959 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2921C>T; p.T974I; 7:139583861-139583861 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3331C>T; p.L1111L; 7:139573193-139573193 |
skin | malignant_melanoma | Substitution - coding silent |
c.1158C>T; p.S386S; 7:139631671-139631671 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1477G>A; p.E493K; 7:139626743-139626743 |
breast | carcinoma | Substitution - Missense |
c.455C>T; p.P152L; 7:139716580-139716580 |
skin | malignant_melanoma | Substitution - Missense |
c.2108C>G; p.A703G; 7:139613206-139613206 |
breast | carcinoma | Substitution - Missense |
c.22_23insA; p.M8fs*20; 7:139717012-139717013 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.154A>G; p.S52G; 7:139716881-139716881 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3448C>T; p.P1150S; 7:139573076-139573076 |
skin | malignant_melanoma | Substitution - Missense |
c.253G>A; p.V85I; 7:139716782-139716782 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.253G>A; p.V85I; 7:139716782-139716782 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3030C>T; p.S1010S; 7:139575224-139575224 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.253G>A; p.V85I; 7:139716782-139716782 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2467C>T; p.Q823*; 7:139596967-139596967 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2208C>T; p.T736T; 7:139604128-139604128 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2742C>T; p.N914N; 7:139584040-139584040 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.344T>G; p.M115R; 7:139716691-139716691 |
thyroid | other; neoplasm | Substitution - Missense |
c.1907C>T; p.P636L; 7:139614369-139614369 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2522G>A; p.R841H; 7:139596912-139596912 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2316C>T; p.T772T; 7:139600536-139600536 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1976C>T; p.P659L; 7:139614300-139614300 |
skin | malignant_melanoma | Substitution - Missense |
c.1901G>A; p.S634N; 7:139614375-139614375 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1661G>A; p.R554Q; 7:139620522-139620522 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2688G>C; p.E896D; 7:139596746-139596746 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2688G>C; p.E896D; 7:139596746-139596746 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2315C>T; p.T772I; 7:139600537-139600537 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1980delC; p.G661fs*63; 7:139614296-139614296 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1980delC; p.G661fs*63; 7:139614296-139614296 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1980delC; p.G661fs*63; 7:139614296-139614296 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1661G>A; p.R554Q; 7:139620522-139620522 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2688G>C; p.E896D; 7:139596746-139596746 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2688G>C; p.E896D; 7:139596746-139596746 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2905G>A; p.V969M; 7:139583877-139583877 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2905G>A; p.V969M; 7:139583877-139583877 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3461C>T; p.P1154L; 7:139573063-139573063 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.511G>A; p.A171T; 7:139716524-139716524 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3391G>A; p.V1131M; 7:139573133-139573133 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2097A>T; p.P699P; 7:139613217-139613217 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2690A>G; p.E897G; 7:139596744-139596744 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3190C>A; p.P1064T; 7:139573334-139573334 |
breast | carcinoma | Substitution - Missense |
c.1599C>T; p.L533L; 7:139626621-139626621 |
oesophagus | carcinoma | Substitution - coding silent |
c.2056G>A; p.V686I; 7:139613258-139613258 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2123C>T; p.P708L; 7:139604213-139604213 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2074G>A; p.A692T; 7:139613240-139613240 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2271C>T; p.H757H; 7:139600581-139600581 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.745C>T; p.R249W; 7:139716290-139716290 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3524C>T; p.A1175V; 7:139573000-139573000 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1432C>T; p.Q478*; 7:139628955-139628955 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2663T>A; p.I888N; 7:139596771-139596771 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2664C>T; p.I888I; 7:139596770-139596770 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.49C>T; p.P17S; 7:139716986-139716986 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2552G>A; p.C851Y; 7:139596882-139596882 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2580C>T; p.G860G; 7:139596854-139596854 |
breast | carcinoma | Substitution - coding silent |
c.1812C>A; p.S604S; 7:139614464-139614464 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2580C>T; p.G860G; 7:139596854-139596854 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.143G>A; p.S48N; 7:139716892-139716892 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.478G>A; p.G160R; 7:139716557-139716557 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.124_125insCTG; p.T42_G43insA; 7:139716910-139716911 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - In frame |
c.891C>T; p.P297P; 7:139716144-139716144 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.891C>T; p.P297P; 7:139716144-139716144 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1940G>A; p.R647Q; 7:139614336-139614336 |
prostate | carcinoma | Substitution - Missense |
c.3486G>T; p.Q1162H; 7:139573038-139573038 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.3120C>T; p.L1040L; 7:139575134-139575134 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2301G>A; p.Q767Q; 7:139600551-139600551 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2314A>G; p.T772A; 7:139600538-139600538 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2314A>G; p.T772A; 7:139600538-139600538 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2314A>G; p.T772A; 7:139600538-139600538 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1921A>G; p.T641A; 7:139614355-139614355 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2404C>A; p.R802R; 7:139600448-139600448 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.398G>A; p.R133H; 7:139716637-139716637 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3096C>T; p.F1032F; 7:139575158-139575158 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3549T>G; p.T1183T; 7:139572975-139572975 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2405G>A; p.R802Q; 7:139600447-139600447 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2405G>A; p.R802Q; 7:139600447-139600447 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2405G>A; p.R802Q; 7:139600447-139600447 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2405G>A; p.R802Q; 7:139600447-139600447 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.696C>A; p.N232K; 7:139716339-139716339 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2822G>T; p.R941L; 7:139583960-139583960 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2616G>A; p.R872R; 7:139596818-139596818 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.875A>G; p.K292R; 7:139716160-139716160 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1231C>T; p.R411W; 7:139631281-139631281 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.429C>T; p.S143S; 7:139716606-139716606 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.711C>T; p.A237A; 7:139716324-139716324 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.347G>A; p.R116H; 7:139716688-139716688 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1812C>G; p.S604S; 7:139614464-139614464 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2007C>T; p.P669P; 7:139613307-139613307 |
breast | carcinoma | Substitution - coding silent |
c.2316C>A; p.T772T; 7:139600536-139600536 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1949delC; p.P650fs*74; 7:139614327-139614327 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.1119C>T; p.I373I; 7:139631710-139631710 |
skin | malignant_melanoma | Substitution - coding silent |
c.292G>A; p.A98T; 7:139716743-139716743 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1119C>T; p.I373I; 7:139631710-139631710 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.780C>T; p.F260F; 7:139716255-139716255 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.780C>T; p.F260F; 7:139716255-139716255 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3464C>A; p.S1155*; 7:139573060-139573060 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1231C>A; p.R411R; 7:139631281-139631281 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2628C>T; p.V876V; 7:139596806-139596806 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.209C>T; p.S70F; 7:139716826-139716826 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.350G>A; p.R117Q; 7:139716685-139716685 |
breast | carcinoma | Substitution - Missense |
c.47C>T; p.S16F; 7:139716988-139716988 |
skin | malignant_melanoma | Substitution - Missense |
c.2375G>T; p.R792L; 7:139600477-139600477 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.366C>T; p.L122L; 7:139716669-139716669 |
skin | malignant_melanoma | Substitution - coding silent |
c.1705A>G; p.I569V; 7:139620478-139620478 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.414C>T; p.I138I; 7:139716621-139716621 |
skin | malignant_melanoma | Substitution - coding silent |
c.955G>T; p.G319C; 7:139716080-139716080 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2546C>T; p.P849L; 7:139596888-139596888 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1059C>G; p.V353V; 7:139715976-139715976 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1059C>G; p.V353V; 7:139715976-139715976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.210C>A; p.S70S; 7:139716825-139716825 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1059C>G; p.V353V; 7:139715976-139715976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1051A>G; p.S351G; 7:139715984-139715984 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.963C>G; p.I321M; 7:139716072-139716072 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1232G>A; p.R411Q; 7:139631280-139631280 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.514A>C; p.T172P; 7:139716521-139716521 |
breast | carcinoma | Substitution - Missense |
c.2767G>A; p.D923N; 7:139584015-139584015 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2332C>T; p.P778S; 7:139600520-139600520 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1338G>A; p.W446*; 7:139631174-139631174 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3396G>A; p.Q1132Q; 7:139573128-139573128 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1977C>T; p.P659P; 7:139614299-139614299 |
skin | malignant_melanoma | Substitution - coding silent |
c.1619+5G>T; p.?; 7:139626596-139626596 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.3087C>T; p.G1029G; 7:139575167-139575167 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.932C>T; p.A311V; 7:139716103-139716103 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.254T>C; p.V85A; 7:139716781-139716781 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.254T>C; p.V85A; 7:139716781-139716781 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.254T>C; p.V85A; 7:139716781-139716781 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.349C>T; p.R117*; 7:139716686-139716686 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.254T>C; p.V85A; 7:139716781-139716781 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.254T>C; p.V85A; 7:139716781-139716781 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2913C>T; p.P971P; 7:139583869-139583869 |
skin | malignant_melanoma | Substitution - coding silent |
c.2913C>T; p.P971P; 7:139583869-139583869 |
skin | malignant_melanoma | Substitution - coding silent |
c.3413C>T; p.A1138V; 7:139573111-139573111 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.713G>A; p.R238Q; 7:139716322-139716322 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1149C>A; p.D383E; 7:139631680-139631680 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.104C>T; p.P35L; 7:139716931-139716931 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2220G>A; p.E740E; 7:139604116-139604116 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.326G>A; p.G109D; 7:139716709-139716709 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2665A>G; p.T889A; 7:139596769-139596769 |
breast | carcinoma | Substitution - Missense |
c.1771G>A; p.V591I; 7:139620412-139620412 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3523G>A; p.A1175T; 7:139573001-139573001 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2508G>A; p.E836E; 7:139596926-139596926 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.831C>T; p.F277F; 7:139716204-139716204 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1627T>G; p.S543A; 7:139620556-139620556 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1087C>T; p.Q363*; 7:139715948-139715948 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1699_1700CC>TT; p.P567F; 7:139620483-139620484 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2374C>T; p.R792W; 7:139600478-139600478 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2726C>T; p.S909F; 7:139584056-139584056 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.2647C>T; p.P883S; 7:139596787-139596787 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1574C>T; p.P525L; 7:139626646-139626646 |
skin | malignant_melanoma | Substitution - Missense |
c.199G>A; p.V67I; 7:139716836-139716836 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.199G>A; p.V67I; 7:139716836-139716836 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.199G>A; p.V67I; 7:139716836-139716836 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.199G>A; p.V67I; 7:139716836-139716836 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1975C>T; p.P659S; 7:139614301-139614301 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1313A>G; p.D438G; 7:139631199-139631199 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2865C>T; p.S955S; 7:139583917-139583917 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1325C>T; p.P442L; 7:139631187-139631187 |
oesophagus | carcinoma | Substitution - Missense |
c.818C>T; p.T273M; 7:139716217-139716217 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2651C>A; p.T884K; 7:139596783-139596783 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2245G>A; p.A749T; 7:139604091-139604091 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.96A>C; p.K32N; 7:139716939-139716939 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2148T>C; p.L716L; 7:139604188-139604188 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.280G>A; p.V94M; 7:139716755-139716755 |
breast | carcinoma | Substitution - Missense |
c.1710G>A; p.T570T; 7:139620473-139620473 |
prostate | carcinoma | Substitution - coding silent |
c.6C>T; p.A2A; 7:139777618-139777618 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6C>T; p.A2A; 7:139777618-139777618 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.284T>C; p.V95A; 7:139716751-139716751 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.727G>T; p.E243*; 7:139716308-139716308 |
breast | carcinoma | Substitution - Nonsense |
c.1330C>T; p.P444S; 7:139631182-139631182 |
skin | malignant_melanoma | Substitution - Missense |
c.1734C>T; p.T578T; 7:139620449-139620449 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2602C>T; p.R868W; 7:139596832-139596832 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.763G>T; p.A255S; 7:139716272-139716272 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.320delT; p.V107fs*8; 7:139716715-139716715 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.3395A>G; p.Q1132R; 7:139573129-139573129 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3362T>C; p.V1121A; 7:139573162-139573162 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.361A>G; p.S121G; 7:139716674-139716674 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3560T>G; p.L1187R; 7:139572964-139572964 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2265T>C; p.H755H; 7:139600587-139600587 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.612C>A; p.F204L; 7:139716423-139716423 |
liver | carcinoma | Substitution - Missense |
c.1883C>T; p.A628V; 7:139614393-139614393 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1898G>A; p.R633Q; 7:139614378-139614378 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.29C>G; p.S10*; 7:139717006-139717006 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1010G>T; p.R337I; 7:139716025-139716025 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2694G>A; p.E898E; 7:139596740-139596740 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3586C>T; p.P1196S; 7:139572938-139572938 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3150C>T; p.D1050D; 7:139573374-139573374 |
breast | carcinoma | Substitution - coding silent |
c.2822G>A; p.R941H; 7:139583960-139583960 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2581G>A; p.D861N; 7:139596853-139596853 |
ovary | other; neoplasm | Substitution - Missense |
c.405C>T; p.S135S; 7:139716630-139716630 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2684A>G; p.D895G; 7:139596750-139596750 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2878T>G; p.C960G; 7:139583904-139583904 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |