General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 7158 |
Name | TP53BP1 |
Synonymous | tumor protein p53 binding protein 1;TP53BP1;tumor protein p53 binding protein 1 |
Definition | p53-binding protein 1|tumor protein 53-binding protein, 1|tumor protein p53-binding protein, 1|tumor suppressor p53-binding protein 1 |
Position | 15q15-q21 |
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 0.23. |
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.4186C>T; p.R1396C; 15:43421074-43421074 |
skin | malignant_melanoma | Substitution - Missense |
c.2489C>T; p.S830F; 15:43456104-43456104 |
skin | malignant_melanoma | Substitution - Missense |
c.3483G>C; p.L1161F; 15:43432371-43432371 |
breast | carcinoma | Substitution - Missense |
c.1142C>T; p.P381L; 15:43474696-43474696 |
NS | malignant_melanoma | Substitution - Missense |
c.1142C>T; p.P381L; 15:43474696-43474696 |
NS | malignant_melanoma | Substitution - Missense |
c.857A>G; p.E286G; 15:43477676-43477676 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1043G>A; p.R348K; 15:43475592-43475592 |
breast | carcinoma | Substitution - Missense |
c.3416C>A; p.P1139H; 15:43432438-43432438 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3493G>A; p.E1165K; 15:43432361-43432361 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1329C>T; p.F443F; 15:43469903-43469903 |
skin | malignant_melanoma | Substitution - coding silent |
c.221G>A; p.G74E; 15:43492052-43492052 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2130delA; p.E711fs*12; 15:43456463-43456463 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3050delA; p.N1017fs*20; 15:43441559-43441559 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2261C>T; p.S754F; 15:43456332-43456332 |
skin | malignant_melanoma | Substitution - Missense |
c.3607G>T; p.G1203C; 15:43432247-43432247 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2926G>T; p.G976W; 15:43446486-43446486 |
thyroid | carcinoma | Substitution - Missense |
c.1663C>G; p.L555V; 15:43456930-43456930 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.670G>A; p.E224K; 15:43479500-43479500 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.670G>A; p.E224K; 15:43479500-43479500 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2821+5G>A; p.?; 15:43447361-43447361 |
breast | carcinoma | Unknown |
c.4459G>A; p.V1487I; 15:43420512-43420512 |
breast | carcinoma | Substitution - Missense |
c.5497G>A; p.D1833N; 15:43408985-43408985 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.860G>T; p.S287I; 15:43477673-43477673 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2319A>T; p.E773D; 15:43456274-43456274 |
breast | carcinoma | Substitution - Missense |
c.5342G>A; p.R1781Q; 15:43409690-43409690 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.14G>A; p.G5E; 15:43492447-43492447 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3651C>T; p.L1217L; 15:43432203-43432203 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.4569C>T; p.Y1523Y; 15:43420402-43420402 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1494G>T; p.K498N; 15:43457099-43457099 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4569C>T; p.Y1523Y; 15:43420402-43420402 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.14G>A; p.G5E; 15:43492447-43492447 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.445G>T; p.D149Y; 15:43480934-43480934 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2189A>C; p.K730T; 15:43456404-43456404 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4501T>G; p.F1501V; 15:43420470-43420470 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1786G>T; p.D596Y; 15:43456807-43456807 |
ovary | other; neoplasm | Substitution - Missense |
c.1297T>C; p.S433P; 15:43469935-43469935 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.1294G>A; p.A432T; 15:43469938-43469938 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3128G>T; p.R1043M; 15:43438372-43438372 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1234G>C; p.G412R; 15:43469998-43469998 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5431C>T; p.R1811*; 15:43409051-43409051 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5291-8delT; p.?; 15:43409749-43409749 |
liver | carcinoma | Unknown |
c.471C>T; p.S157S; 15:43480908-43480908 |
skin | malignant_melanoma | Substitution - coding silent |
c.695C>T; p.S232F; 15:43479475-43479475 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.40C>T; p.Q14*; 15:43492421-43492421 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2130_2131insA; p.E711fs*9; 15:43456462-43456463 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.309delC; p.I104fs*95; 15:43491716-43491716 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3586G>A; p.V1196I; 15:43432268-43432268 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1900C>T; p.R634*; 15:43456693-43456693 |
skin | malignant_melanoma | Substitution - Nonsense |
c.3606T>C; p.S1202S; 15:43432248-43432248 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1900C>T; p.R634*; 15:43456693-43456693 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3667G>T; p.E1223*; 15:43428162-43428162 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3687G>A; p.Q1229Q; 15:43428142-43428142 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.959C>G; p.S320C; 15:43475676-43475676 |
pancreas | carcinoma | Substitution - Missense |
c.3001G>T; p.E1001*; 15:43446411-43446411 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2551C>T; p.Q851*; 15:43456042-43456042 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.4439C>T; p.S1480F; 15:43420532-43420532 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.5417C>T; p.A1806V; 15:43409065-43409065 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1222A>G; p.K408E; 15:43470010-43470010 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.163G>T; p.E55*; 15:43492298-43492298 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4396C>T; p.P1466S; 15:43420575-43420575 |
skin | malignant_melanoma | Substitution - Missense |
c.2554C>T; p.Q852*; 15:43456039-43456039 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Nonsense |
c.163G>T; p.E55*; 15:43492298-43492298 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5537A>G; p.Y1846C; 15:43408945-43408945 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4904C>T; p.S1635F; 15:43415764-43415764 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.5573G>T; p.R1858I; 15:43408909-43408909 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5573G>T; p.R1858I; 15:43408909-43408909 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1102G>A; p.D368N; 15:43474736-43474736 |
parathyroid | carcinoma | Substitution - Missense |
c.2209G>T; p.E737*; 15:43456384-43456384 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1643C>T; p.T548M; 15:43456950-43456950 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.5058T>A; p.S1686S; 15:43415610-43415610 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.657A>G; p.E219E; 15:43479513-43479513 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.5058T>A; p.S1686S; 15:43415610-43415610 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2209G>T; p.E737*; 15:43456384-43456384 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5774C>T; p.S1925L; 15:43407528-43407528 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3902A>C; p.D1301A; 15:43422038-43422038 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5575A>G; p.I1859V; 15:43408907-43408907 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.5418G>A; p.A1806A; 15:43409064-43409064 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5407C>T; p.L1803F; 15:43409075-43409075 |
stomach | adenocarcinoma | Substitution - Missense |
c.4667-6C>T; p.?; 15:43416422-43416422 |
skin | malignant_melanoma | Unknown |
c.1087G>T; p.V363F; 15:43474751-43474751 |
breast | carcinoma | Substitution - Missense |
c.4667-6C>T; p.?; 15:43416422-43416422 |
skin | malignant_melanoma | Unknown |
c.1216C>T; p.Q406*; 15:43470016-43470016 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.4927A>G; p.S1643G; 15:43415741-43415741 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3977G>A; p.S1326N; 15:43421963-43421963 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4673T>G; p.V1558G; 15:43416410-43416410 |
breast | carcinoma | Substitution - Missense |
c.177+7G>A; p.?; 15:43492277-43492277 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.177+7G>A; p.?; 15:43492277-43492277 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.2501C>T; p.S834F; 15:43456092-43456092 |
skin | malignant_melanoma | Substitution - Missense |
c.2149G>T; p.E717*; 15:43456444-43456444 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5767G>A; p.D1923N; 15:43407535-43407535 |
skin | malignant_melanoma | Substitution - Missense |
c.5767G>A; p.D1923N; 15:43407535-43407535 |
skin | malignant_melanoma | Substitution - Missense |
c.3928T>C; p.S1310P; 15:43422012-43422012 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.357-1G>C; p.?; 15:43481023-43481023 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.3593C>T; p.T1198I; 15:43432261-43432261 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.4652A>G; p.E1551G; 15:43420319-43420319 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1448C>T; p.S483L; 15:43457145-43457145 |
skin | malignant_melanoma | Substitution - Missense |
c.1402G>T; p.E468*; 15:43457191-43457191 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2002C>T; p.P668S; 15:43456591-43456591 |
skin | malignant_melanoma | Substitution - Missense |
c.2002C>T; p.P668S; 15:43456591-43456591 |
skin | malignant_melanoma | Substitution - Missense |
c.5448C>T; p.F1816F; 15:43409034-43409034 |
breast | carcinoma | Substitution - coding silent |
c.211G>A; p.E71K; 15:43492062-43492062 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3722G>T; p.R1241I; 15:43428107-43428107 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4994C>T; p.S1665L; 15:43415674-43415674 |
breast | carcinoma | Substitution - Missense |
c.4288T>C; p.S1430P; 15:43420683-43420683 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1071-1G>T; p.?; 15:43474768-43474768 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.4338C>A; p.S1446S; 15:43420633-43420633 |
thyroid | carcinoma | Substitution - coding silent |
c.3820G>T; p.E1274*; 15:43422120-43422120 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.4569C>A; p.Y1523*; 15:43420402-43420402 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2702-4_2702-3insT; p.?; 15:43447488-43447489 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_III | Unknown |
c.2702-4_2702-3insT; p.?; 15:43447488-43447489 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Unknown |
c.2176G>T; p.D726Y; 15:43456417-43456417 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4655A>G; p.Y1552C; 15:43420316-43420316 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5812C>T; p.Q1938*; 15:43407490-43407490 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4747C>T; p.R1583*; 15:43416336-43416336 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4401C>T; p.F1467F; 15:43420570-43420570 |
skin | malignant_melanoma | Substitution - coding silent |
c.1471A>T; p.K491*; 15:43457122-43457122 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4733G>T; p.R1578I; 15:43416350-43416350 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5243G>A; p.R1748H; 15:43413166-43413166 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1971G>A; p.E657E; 15:43456622-43456622 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1971G>A; p.E657E; 15:43456622-43456622 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1500C>T; p.S500S; 15:43457093-43457093 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1500C>T; p.S500S; 15:43457093-43457093 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2811T>C; p.S937S; 15:43447376-43447376 |
breast | carcinoma | Substitution - coding silent |
c.412G>T; p.E138*; 15:43480967-43480967 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3881delG; p.G1294fs*68; 15:43422059-43422059 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5888C>T; p.P1963L; 15:43407414-43407414 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2889_2890CC>TT; p.H964Y; 15:43446522-43446523 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2731G>T; p.E911*; 15:43447456-43447456 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2680A>C; p.S894R; 15:43455913-43455913 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1645G>A; p.E549K; 15:43456948-43456948 |
skin | malignant_melanoma | Substitution - Missense |
c.4038C>A; p.P1346P; 15:43421902-43421902 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5444A>G; p.Y1815C; 15:43409038-43409038 |
breast | carcinoma | Substitution - Missense |
c.4351G>T; p.D1451Y; 15:43420620-43420620 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4850T>G; p.I1617S; 15:43416233-43416233 |
breast | carcinoma | Substitution - Missense |
c.3080C>G; p.A1027G; 15:43441529-43441529 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.5313C>G; p.F1771L; 15:43409719-43409719 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4490C>T; p.S1497F; 15:43420481-43420481 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4362T>A; p.A1454A; 15:43420609-43420609 |
skin | malignant_melanoma | Substitution - coding silent |
c.4027G>T; p.G1343W; 15:43421913-43421913 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5029C>T; p.R1677W; 15:43415639-43415639 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2496G>A; p.Q832Q; 15:43456097-43456097 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5771C>T; p.P1924L; 15:43407531-43407531 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.2001C>A; p.I667I; 15:43456592-43456592 |
skin | malignant_melanoma | Substitution - coding silent |
c.4510G>T; p.G1504W; 15:43420461-43420461 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1681C>T; p.P561S; 15:43456912-43456912 |
skin | malignant_melanoma | Substitution - Missense |
c.4510G>T; p.G1504W; 15:43420461-43420461 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.762A>G; p.P254P; 15:43479408-43479408 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.256G>T; p.E86*; 15:43492017-43492017 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2935C>T; p.P979S; 15:43446477-43446477 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.484+1G>A; p.?; 15:43480894-43480894 |
lung | carcinoma; adenocarcinoma | Unknown |
c.5765C>A; p.T1922K; 15:43407537-43407537 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.1234G>A; p.G412S; 15:43469998-43469998 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2689G>T; p.E897*; 15:43455904-43455904 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.5833G>C; p.E1945Q; 15:43407469-43407469 |
breast | carcinoma | Substitution - Missense |
c.1234G>A; p.G412S; 15:43469998-43469998 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1234G>A; p.G412S; 15:43469998-43469998 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2689G>T; p.E897*; 15:43455904-43455904 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.919T>C; p.F307L; 15:43477614-43477614 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.919T>C; p.F307L; 15:43477614-43477614 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2185C>T; p.Q729*; 15:43456408-43456408 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.4957_4960ATCA>TCCT; p.I1653_T1654>SS; 15:43415708-43415711 |
lung | carcinoma; non_small_cell_carcinoma | Complex - compound substitution |
c.3420T>C; p.S1140S; 15:43432434-43432434 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1577delC; p.P526fs*6; 15:43457016-43457016 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5867G>T; p.R1956I; 15:43407435-43407435 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1604G>T; p.R535I; 15:43456989-43456989 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.964C>T; p.P322S; 15:43475671-43475671 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2600C>A; p.S867*; 15:43455993-43455993 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.5030G>A; p.R1677Q; 15:43415638-43415638 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.4970C>T; p.P1657L; 15:43415698-43415698 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1625A>T; p.N542I; 15:43456968-43456968 |
liver | carcinoma | Substitution - Missense |
c.5348G>C; p.G1783A; 15:43409684-43409684 |
breast | carcinoma | Substitution - Missense |
c.225C>A; p.D75E; 15:43492048-43492048 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.3235G>T; p.G1079C; 15:43432619-43432619 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2038A>T; p.K680*; 15:43456555-43456555 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3056C>T; p.S1019F; 15:43441553-43441553 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1375-2A>G; p.?; 15:43457220-43457220 |
stomach | adenocarcinoma | Unknown |
c.5050C>T; p.R1684C; 15:43415618-43415618 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3056C>T; p.S1019F; 15:43441553-43441553 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.4324C>T; p.R1442*; 15:43420647-43420647 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3358A>G; p.M1120V; 15:43432496-43432496 |
kidney | other; neoplasm | Substitution - Missense |
c.2924C>T; p.S975F; 15:43446488-43446488 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.5197G>A; p.A1733T; 15:43413212-43413212 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2886G>A; p.E962E; 15:43446526-43446526 |
thyroid | carcinoma | Substitution - coding silent |
c.1143C>A; p.P381P; 15:43474695-43474695 |
pancreas | carcinoma | Substitution - coding silent |
c.337C>A; p.Q113K; 15:43491688-43491688 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1516C>T; p.L506L; 15:43457077-43457077 |
skin | malignant_melanoma | Substitution - coding silent |
c.4697G>T; p.G1566V; 15:43416386-43416386 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1176G>T; p.M392I; 15:43470056-43470056 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5451G>T; p.L1817L; 15:43409031-43409031 |
breast | carcinoma | Substitution - coding silent |
c.1076C>A; p.S359Y; 15:43474762-43474762 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4639C>G; p.L1547V; 15:43420332-43420332 |
prostate | carcinoma | Substitution - Missense |
c.4545T>G; p.Y1515*; 15:43420426-43420426 |
pancreas | other; adenoma | Substitution - Nonsense |
c.2742C>T; p.I914I; 15:43447445-43447445 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1651A>T; p.M551L; 15:43456942-43456942 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2185C>G; p.Q729E; 15:43456408-43456408 |
breast | carcinoma | Substitution - Missense |
c.2839G>A; p.E947K; 15:43446573-43446573 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5544G>T; p.L1848F; 15:43408938-43408938 |
pancreas | carcinoma | Substitution - Missense |
c.5768A>G; p.D1923G; 15:43407534-43407534 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3146G>A; p.R1049Q; 15:43438354-43438354 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3611A>T; p.E1204V; 15:43432243-43432243 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3729C>T; p.I1243I; 15:43428100-43428100 |
skin | malignant_melanoma | Substitution - coding silent |
c.1780A>G; p.R594G; 15:43456813-43456813 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.616A>T; p.R206W; 15:43479886-43479886 |
breast | carcinoma | Substitution - Missense |
c.3026-1G>A; p.?; 15:43441584-43441584 |
central_nervous_system; temporoparietal | glioma; astrocytoma_Grade_IV | Unknown |
c.4921G>A; p.A1641T; 15:43415747-43415747 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2487T>C; p.D829D; 15:43456106-43456106 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.992_997delTGGCTT; p.L331_A332delLA; 15:43475638-43475643 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.2487T>C; p.D829D; 15:43456106-43456106 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2487T>C; p.D829D; 15:43456106-43456106 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.4198C>T; p.R1400*; 15:43421062-43421062 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4976C>T; p.A1659V; 15:43415692-43415692 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.4198C>T; p.R1400*; 15:43421062-43421062 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3030T>C; p.P1010P; 15:43441579-43441579 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.2630C>G; p.S877*; 15:43455963-43455963 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.2487T>G; p.D829E; 15:43456106-43456106 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.989C>T; p.S330F; 15:43475646-43475646 |
skin | malignant_melanoma | Substitution - Missense |
c.847G>T; p.E283*; 15:43477686-43477686 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.117C>T; p.H39H; 15:43492344-43492344 |
skin | malignant_melanoma | Substitution - coding silent |
c.3517A>T; p.T1173S; 15:43432337-43432337 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5449C>A; p.L1817M; 15:43409033-43409033 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3219G>T; p.E1073D; 15:43432635-43432635 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2447T>G; p.L816R; 15:43456146-43456146 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2810G>A; p.S937N; 15:43447377-43447377 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.273C>T; p.D91D; 15:43491752-43491752 |
skin | malignant_melanoma | Substitution - coding silent |
c.2300G>A; p.R767K; 15:43456293-43456293 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2916A>C; p.K972N; 15:43446496-43446496 |
skin | malignant_melanoma | Substitution - Missense |
c.4717G>C; p.E1573Q; 15:43416366-43416366 |
breast | carcinoma | Substitution - Missense |
c.3470T>G; p.M1157R; 15:43432384-43432384 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.4312C>A; p.R1438S; 15:43420659-43420659 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2062C>T; p.P688S; 15:43456531-43456531 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2062C>T; p.P688S; 15:43456531-43456531 |
skin; leg | malignant_melanoma | Substitution - Missense |
c.2062C>T; p.P688S; 15:43456531-43456531 |
skin; leg | malignant_melanoma | Substitution - Missense |
c.850C>G; p.L284V; 15:43477683-43477683 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2435A>G; p.Y812C; 15:43456158-43456158 |
prostate | adenoma | Substitution - Missense |
c.5287G>A; p.E1763K; 15:43413122-43413122 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.4723G>T; p.E1575*; 15:43416360-43416360 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5043G>A; p.K1681K; 15:43415625-43415625 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.472C>T; p.L158F; 15:43480907-43480907 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.5181C>G; p.T1727T; 15:43413228-43413228 |
pancreas | carcinoma | Substitution - coding silent |
c.1198G>A; p.E400K; 15:43470034-43470034 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3814G>A; p.E1272K; 15:43422126-43422126 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1716A>T; p.A572A; 15:43456877-43456877 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5432G>A; p.R1811Q; 15:43409050-43409050 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5528A>G; p.Y1843C; 15:43408954-43408954 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.156G>A; p.T52T; 15:43492305-43492305 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4994C>G; p.S1665*; 15:43415674-43415674 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2919G>T; p.G973G; 15:43446493-43446493 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.4665A>T; p.A1555A; 15:43420306-43420306 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - coding silent |
c.4313G>A; p.R1438H; 15:43420658-43420658 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3712C>T; p.R1238C; 15:43428117-43428117 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3712C>T; p.R1238C; 15:43428117-43428117 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2975T>G; p.V992G; 15:43446437-43446437 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.5291-2A>G; p.?; 15:43409743-43409743 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1059C>G; p.D353E; 15:43475576-43475576 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1059C>G; p.D353E; 15:43475576-43475576 |
liver | carcinoma | Substitution - Missense |
c.1059C>G; p.D353E; 15:43475576-43475576 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1059C>G; p.D353E; 15:43475576-43475576 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.632A>G; p.D211G; 15:43479870-43479870 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3961C>T; p.L1321F; 15:43421979-43421979 |
skin | malignant_melanoma | Substitution - Missense |
c.3543G>A; p.G1181G; 15:43432311-43432311 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1970_1972delAGG; p.E657delE; 15:43456621-43456623 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.4003G>A; p.G1335R; 15:43421937-43421937 |
pancreas | carcinoma | Substitution - Missense |
c.3854C>G; p.T1285S; 15:43422086-43422086 |
salivary_gland; mouth_roof | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.2238G>A; p.W746*; 15:43456355-43456355 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5741T>C; p.L1914S; 15:43407561-43407561 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1356C>T; p.S452S; 15:43469876-43469876 |
skin | malignant_melanoma | Substitution - coding silent |
c.1999A>T; p.I667F; 15:43456594-43456594 |
skin | malignant_melanoma | Substitution - Missense |
c.4788G>C; p.L1596L; 15:43416295-43416295 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5625C>G; p.L1875L; 15:43408049-43408049 |
breast | carcinoma | Substitution - coding silent |
c.5855T>C; p.I1952T; 15:43407447-43407447 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1499C>T; p.S500F; 15:43457094-43457094 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.4903T>C; p.S1635P; 15:43415765-43415765 |
pancreas | NS | Substitution - Missense |
c.5732-1G>T; p.?; 15:43407571-43407571 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.4544A>C; p.Y1515S; 15:43420427-43420427 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1128C>T; p.I376I; 15:43474710-43474710 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.178G>A; p.D60N; 15:43492095-43492095 |
skin | malignant_melanoma | Substitution - Missense |
c.1942A>G; p.M648V; 15:43456651-43456651 |
breast | carcinoma | Substitution - Missense |
c.2926G>A; p.G976R; 15:43446486-43446486 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3335C>T; p.P1112L; 15:43432519-43432519 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1904C>T; p.S635F; 15:43456689-43456689 |
breast | carcinoma | Substitution - Missense |
c.3740G>A; p.R1247H; 15:43428089-43428089 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2993C>T; p.A998V; 15:43446419-43446419 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4037C>T; p.P1346L; 15:43421903-43421903 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3941G>A; p.R1314H; 15:43421999-43421999 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4026C>T; p.S1342S; 15:43421914-43421914 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1180A>T; p.T394S; 15:43470052-43470052 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4661G>A; p.S1554N; 15:43420310-43420310 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2036T>A; p.L679H; 15:43456557-43456557 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2300G>T; p.R767I; 15:43456293-43456293 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1070+4A>C; p.?; 15:43475561-43475561 |
liver | carcinoma | Unknown |
c.3549T>A; p.S1183R; 15:43432305-43432305 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.692_693AG>TA; p.Q231L; 15:43479477-43479478 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3055T>A; p.S1019T; 15:43441554-43441554 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.760C>T; p.P254S; 15:43479410-43479410 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1988A>G; p.E663G; 15:43456605-43456605 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5035C>T; p.P1679S; 15:43415633-43415633 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4199G>A; p.R1400Q; 15:43421061-43421061 |
skin | malignant_melanoma | Substitution - Missense |
c.878A>T; p.K293M; 15:43477655-43477655 |
skin | malignant_melanoma | Substitution - Missense |
c.2130A>C; p.K710N; 15:43456463-43456463 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5003G>T; p.R1668I; 15:43415665-43415665 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5003G>T; p.R1668I; 15:43415665-43415665 |
breast | carcinoma | Substitution - Missense |
c.5797_5806del10; p.C1933fs*12; 15:43407496-43407505 |
stomach | carcinoma; diffuse_adenocarcinoma | Deletion - Frameshift |
c.3917C>T; p.S1306F; 15:43422023-43422023 |
skin | malignant_melanoma | Substitution - Missense |
c.5003G>T; p.R1668I; 15:43415665-43415665 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2397G>T; p.E799D; 15:43456196-43456196 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5026G>C; p.E1676Q; 15:43415642-43415642 |
thyroid | other; neoplasm | Substitution - Missense |
c.2044G>T; p.E682*; 15:43456549-43456549 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1435G>A; p.D479N; 15:43457158-43457158 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1648C>T; p.P550S; 15:43456945-43456945 |
skin | malignant_melanoma | Substitution - Missense |
c.3692C>T; p.P1231L; 15:43428137-43428137 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2352C>T; p.S784S; 15:43456241-43456241 |
skin | malignant_melanoma | Substitution - coding silent |
c.4541A>C; p.K1514T; 15:43420430-43420430 |
liver | carcinoma | Substitution - Missense |
c.3083G>T; p.S1028I; 15:43441526-43441526 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5455C>T; p.L1819F; 15:43409027-43409027 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3406A>C; p.K1136Q; 15:43432448-43432448 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3406A>C; p.K1136Q; 15:43432448-43432448 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3406A>C; p.K1136Q; 15:43432448-43432448 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2994G>A; p.A998A; 15:43446418-43446418 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2291C>T; p.P764L; 15:43456302-43456302 |
skin | malignant_melanoma | Substitution - Missense |
c.1262delC; p.P421fs*65; 15:43469970-43469970 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4019A>G; p.K1340R; 15:43421921-43421921 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4748G>T; p.R1583L; 15:43416335-43416335 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.115C>T; p.H39Y; 15:43492346-43492346 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5273G>T; p.S1758I; 15:43413136-43413136 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.115C>T; p.H39Y; 15:43492346-43492346 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4063C>T; p.R1355*; 15:43421877-43421877 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.751G>T; p.E251*; 15:43479419-43479419 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.115C>T; p.H39Y; 15:43492346-43492346 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1746T>C; p.N582N; 15:43456847-43456847 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1746T>C; p.N582N; 15:43456847-43456847 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1746T>C; p.N582N; 15:43456847-43456847 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1347_1352delTATCCC; p.I450_P451delIP; 15:43469880-43469885 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.5051G>A; p.R1684H; 15:43415617-43415617 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5867G>A; p.R1956K; 15:43407435-43407435 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.3770T>C; p.V1257A; 15:43428059-43428059 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1887G>A; p.P629P; 15:43456706-43456706 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |