General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 5789 |
Name | PTPRD |
Synonymous | protein tyrosine phosphatase, receptor type, D;PTPRD;protein tyrosine phosphatase, receptor type, D |
Definition | R-PTP-delta|protein tyrosine phosphatase, receptor type, delta polypeptide|receptor-type tyrosine-protein phosphatase delta |
Position | 9p23-p24.3 |
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 0.08. |
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.1273C>T; p.Q425*; 9:8518118-8518118 |
skin | malignant_melanoma | Substitution - Nonsense |
c.5619C>T; p.F1873F; 9:8319882-8319882 |
skin | malignant_melanoma | Substitution - coding silent |
c.3657C>T; p.L1219L; 9:8465523-8465523 |
skin | malignant_melanoma | Substitution - coding silent |
c.5434G>A; p.G1812R; 9:8331682-8331682 |
skin | malignant_melanoma | Substitution - Missense |
c.2864C>A; p.T955N; 9:8485953-8485953 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1983G>A; p.E661E; 9:8500899-8500899 |
skin | malignant_melanoma | Substitution - coding silent |
c.2864C>T; p.T955I; 9:8485953-8485953 |
skin | malignant_melanoma | Substitution - Missense |
c.4046_4047insT; p.L1349fs*5; 9:8436631-8436632 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.4264C>A; p.Q1422K; 9:8389354-8389354 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1285T>C; p.L429L; 9:8518106-8518106 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3709G>A; p.E1237K; 9:8465471-8465471 |
pancreas | carcinoma | Substitution - Missense |
c.2878G>A; p.D960N; 9:8485939-8485939 |
skin | malignant_melanoma | Substitution - Missense |
c.83G>A; p.R28Q; 9:8636826-8636826 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2377G>A; p.E793K; 9:8492952-8492952 |
skin | malignant_melanoma | Substitution - Missense |
c.744G>A; p.M248I; 9:8521494-8521494 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.83G>A; p.R28Q; 9:8636826-8636826 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2907G>A; p.E969E; 9:8485910-8485910 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.4411A>G; p.S1471G; 9:8376702-8376702 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5504delG; p.G1835fs*21; 9:8331612-8331612 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.3327T>C; p.R1109R; 9:8484205-8484205 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1750C>A; p.R584S; 9:8504333-8504333 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4487G>A; p.R1496Q; 9:8376626-8376626 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3306G>T; p.K1102N; 9:8484226-8484226 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3454G>A; p.G1152R; 9:8471045-8471045 |
breast | carcinoma | Substitution - Missense |
c.4336C>A; p.Q1446K; 9:8389282-8389282 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1750C>A; p.R584S; 9:8504333-8504333 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5324C>T; p.A1775V; 9:8338977-8338977 |
skin | malignant_melanoma | Substitution - Missense |
c.1603T>G; p.S535A; 9:8507375-8507375 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1216G>A; p.E406K; 9:8518175-8518175 |
skin | malignant_melanoma | Substitution - Missense |
c.5188C>T; p.R1730W; 9:8340408-8340408 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.115G>A; p.G39R; 9:8636794-8636794 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1216G>A; p.E406K; 9:8518175-8518175 |
skin | malignant_melanoma | Substitution - Missense |
c.499G>T; p.D167Y; 9:8528633-8528633 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3725C>A; p.A1242E; 9:8460561-8460561 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2886C>T; p.N962N; 9:8485931-8485931 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1115G>T; p.G372V; 9:8518276-8518276 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.4661+5G>C; p.?; 9:8375931-8375931 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.5496A>G; p.E1832E; 9:8331620-8331620 |
skin | malignant_melanoma | Substitution - coding silent |
c.5704G>T; p.E1902*; 9:8317909-8317909 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2675T>C; p.V892A; 9:8486142-8486142 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2675T>C; p.V892A; 9:8486142-8486142 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2606C>G; p.T869S; 9:8486211-8486211 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4623T>C; p.C1541C; 9:8375974-8375974 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.182G>A; p.G61E; 9:8636727-8636727 |
skin; back | malignant_melanoma | Substitution - Missense |
c.1705T>C; p.S569P; 9:8504378-8504378 |
breast | carcinoma | Substitution - Missense |
c.182G>A; p.G61E; 9:8636727-8636727 |
skin | malignant_melanoma | Substitution - Missense |
c.5436A>C; p.G1812G; 9:8331680-8331680 |
skin | malignant_melanoma | Substitution - coding silent |
c.1669G>A; p.G557R; 9:8507309-8507309 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5436A>C; p.G1812G; 9:8331680-8331680 |
skin | malignant_melanoma | Substitution - coding silent |
c.2503C>T; p.Q835*; 9:8486314-8486314 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Nonsense |
c.750C>T; p.G250G; 9:8521488-8521488 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.732T>A; p.N244K; 9:8521506-8521506 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2793T>G; p.T931T; 9:8486024-8486024 |
oesophagus | carcinoma | Substitution - coding silent |
c.2690C>T; p.A897V; 9:8486127-8486127 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.4260G>A; p.R1420R; 9:8389358-8389358 |
skin | malignant_melanoma | Substitution - coding silent |
c.1261C>T; p.P421S; 9:8518130-8518130 |
skin | malignant_melanoma | Substitution - Missense |
c.787C>G; p.P263A; 9:8521451-8521451 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3645A>T; p.T1215T; 9:8465535-8465535 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2314G>T; p.D772Y; 9:8499655-8499655 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3536G>C; p.S1179T; 9:8465644-8465644 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3413+4A>C; p.?; 9:8484115-8484115 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1289G>A; p.S430N; 9:8518102-8518102 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3369G>A; p.M1123I; 9:8484163-8484163 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5322G>T; p.M1774I; 9:8338979-8338979 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4575A>G; p.P1525P; 9:8376022-8376022 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4628C>T; p.P1543L; 9:8375969-8375969 |
skin | malignant_melanoma | Substitution - Missense |
c.2508G>A; p.M836I; 9:8486309-8486309 |
skin; leg | malignant_melanoma | Substitution - Missense |
c.1401G>T; p.M467I; 9:8517990-8517990 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4659C>T; p.C1553C; 9:8375938-8375938 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3967C>T; p.R1323C; 9:8449746-8449746 |
oesophagus | carcinoma | Substitution - Missense |
c.5155G>T; p.G1719W; 9:8340441-8340441 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4637C>T; p.A1546V; 9:8375960-8375960 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5693G>A; p.R1898H; 9:8317920-8317920 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3967C>T; p.R1323C; 9:8449746-8449746 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.900C>A; p.Y300*; 9:8521338-8521338 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1207C>T; p.P403S; 9:8518184-8518184 |
skin | malignant_melanoma | Substitution - Missense |
c.4634A>T; p.D1545V; 9:8375963-8375963 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.1337G>A; p.G446E; 9:8518054-8518054 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.4300G>T; p.E1434*; 9:8389318-8389318 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5538G>A; p.A1846A; 9:8319963-8319963 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5538G>A; p.A1846A; 9:8319963-8319963 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2281G>T; p.G761C; 9:8499688-8499688 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4850A>G; p.N1617S; 9:8341790-8341790 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4850A>G; p.N1617S; 9:8341790-8341790 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2363C>T; p.S788F; 9:8492966-8492966 |
skin | malignant_melanoma | Substitution - Missense |
c.2350-2A>G; p.?; 9:8492981-8492981 |
lung | carcinoma; adenocarcinoma | Unknown |
c.4372G>A; p.E1458K; 9:8389246-8389246 |
skin | malignant_melanoma | Substitution - Missense |
c.2803G>A; p.V935I; 9:8486014-8486014 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2680A>T; p.R894W; 9:8486137-8486137 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.638C>T; p.A213V; 9:8524966-8524966 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.569G>A; p.G190E; 9:8525035-8525035 |
skin | malignant_melanoma | Substitution - Missense |
c.4012C>A; p.P1338T; 9:8436666-8436666 |
pancreas | carcinoma | Substitution - Missense |
c.2912T>C; p.L971P; 9:8485905-8485905 |
skin | malignant_melanoma | Substitution - Missense |
c.2585G>T; p.R862L; 9:8486232-8486232 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.4693G>A; p.V1565I; 9:8341947-8341947 |
skin; forearm | malignant_melanoma | Substitution - Missense |
c.4693G>A; p.V1565I; 9:8341947-8341947 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1682G>A; p.R561Q; 9:8504401-8504401 |
skin | malignant_melanoma | Substitution - Missense |
c.1682G>A; p.R561Q; 9:8504401-8504401 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4692C>T; p.I1564I; 9:8341948-8341948 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1809A>C; p.R603S; 9:8504274-8504274 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4692C>T; p.I1564I; 9:8341948-8341948 |
skin | malignant_melanoma | Substitution - coding silent |
c.1682G>A; p.R561Q; 9:8504401-8504401 |
skin | malignant_melanoma | Substitution - Missense |
c.1682G>A; p.R561Q; 9:8504401-8504401 |
skin | malignant_melanoma | Substitution - Missense |
c.3850G>C; p.V1284L; 9:8460436-8460436 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1868C>T; p.S623F; 9:8501014-8501014 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.5473G>T; p.G1825C; 9:8331643-8331643 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.416G>A; p.R139H; 9:8528716-8528716 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1280G>A; p.R427Q; 9:8518111-8518111 |
skin | malignant_melanoma | Substitution - Missense |
c.1280G>A; p.R427Q; 9:8518111-8518111 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1868C>T; p.S623F; 9:8501014-8501014 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1868C>T; p.S623F; 9:8501014-8501014 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.4389G>A; p.V1463V; 9:8376724-8376724 |
breast | carcinoma; HER-positive_carcinoma | Substitution - coding silent |
c.2948G>T; p.G983V; 9:8485869-8485869 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3020C>T; p.P1007L; 9:8485797-8485797 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2674G>A; p.V892I; 9:8486143-8486143 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3107T>C; p.L1036P; 9:8485273-8485273 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3361G>A; p.D1121N; 9:8484171-8484171 |
skin | malignant_melanoma | Substitution - Missense |
c.5005A>G; p.N1669D; 9:8341211-8341211 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1423C>G; p.Q475E; 9:8517968-8517968 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1122G>A; p.A374A; 9:8518269-8518269 |
skin | malignant_melanoma | Substitution - coding silent |
c.1122G>A; p.A374A; 9:8518269-8518269 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5410C>T; p.Q1804*; 9:8331706-8331706 |
liver | carcinoma | Substitution - Nonsense |
c.2534C>T; p.P845L; 9:8486283-8486283 |
skin | malignant_melanoma | Substitution - Missense |
c.5410C>T; p.Q1804*; 9:8331706-8331706 |
skin | malignant_melanoma | Substitution - Nonsense |
c.3542G>C; p.R1181P; 9:8465638-8465638 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5410C>T; p.Q1804*; 9:8331706-8331706 |
skin | malignant_melanoma | Substitution - Nonsense |
c.5689T>C; p.Y1897H; 9:8317924-8317924 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.368G>T; p.R123M; 9:8528764-8528764 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1161G>A; p.S387S; 9:8518230-8518230 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4708T>C; p.L1570L; 9:8341932-8341932 |
skin | malignant_melanoma | Substitution - coding silent |
c.185A>G; p.K62R; 9:8636724-8636724 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1997C>T; p.P666L; 9:8500885-8500885 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1997C>T; p.P666L; 9:8500885-8500885 |
skin | malignant_melanoma | Substitution - Missense |
c.5354G>A; p.R1785K; 9:8338947-8338947 |
skin | malignant_melanoma | Substitution - Missense |
c.4067A>C; p.K1356T; 9:8436611-8436611 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2529G>T; p.W843C; 9:8486288-8486288 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5154G>T; p.Q1718H; 9:8340442-8340442 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2679C>T; p.F893F; 9:8486138-8486138 |
skin | malignant_melanoma | Substitution - coding silent |
c.5054G>C; p.R1685T; 9:8341162-8341162 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.5023C>A; p.L1675I; 9:8341193-8341193 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1085A>C; p.N362T; 9:8518306-8518306 |
thyroid | other; neoplasm | Substitution - Missense |
c.5541C>T; p.G1847G; 9:8319960-8319960 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.5541C>T; p.G1847G; 9:8319960-8319960 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4241A>G; p.N1414S; 9:8389377-8389377 |
pancreas | carcinoma | Substitution - Missense |
c.1348G>T; p.G450*; 9:8518043-8518043 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1348G>T; p.G450*; 9:8518043-8518043 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.4241A>G; p.N1414S; 9:8389377-8389377 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.3578C>T; p.A1193V; 9:8465602-8465602 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4241A>G; p.N1414S; 9:8389377-8389377 |
pancreas | carcinoma | Substitution - Missense |
c.1121C>T; p.A374V; 9:8518270-8518270 |
prostate | carcinoma | Substitution - Missense |
c.1258G>A; p.A420T; 9:8518133-8518133 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.G285R; 9:8521385-8521385 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1349G>C; p.G450A; 9:8518042-8518042 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3759G>T; p.M1253I; 9:8460527-8460527 |
pancreas | carcinoma | Substitution - Missense |
c.2096G>A; p.S699N; 9:8500786-8500786 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1010C>T; p.T337I; 9:8518381-8518381 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1093G>A; p.E365K; 9:8518298-8518298 |
skin | malignant_melanoma | Substitution - Missense |
c.1010C>T; p.T337I; 9:8518381-8518381 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.5396C>G; p.T1799R; 9:8331720-8331720 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1093G>A; p.E365K; 9:8518298-8518298 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.5455G>A; p.G1819R; 9:8331661-8331661 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.317A>C; p.E106A; 9:8633352-8633352 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2392C>A; p.L798I; 9:8492937-8492937 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3685G>A; p.V1229M; 9:8465495-8465495 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2774T>G; p.L925R; 9:8486043-8486043 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.924G>T; p.L308L; 9:8521314-8521314 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.540A>G; p.S180S; 9:8528592-8528592 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.426G>A; p.T142T; 9:8528706-8528706 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3969C>T; p.R1323R; 9:8449744-8449744 |
skin | malignant_melanoma | Substitution - coding silent |
c.239C>T; p.S80L; 9:8633430-8633430 |
skin | malignant_melanoma | Substitution - Missense |
c.2358C>T; p.I786I; 9:8492971-8492971 |
skin | malignant_melanoma | Substitution - coding silent |
c.3952C>T; p.P1318S; 9:8449761-8449761 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1204G>T; p.G402W; 9:8518187-8518187 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.463C>T; p.P155S; 9:8528669-8528669 |
skin | malignant_melanoma | Substitution - Missense |
c.793C>A; p.P265T; 9:8521445-8521445 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5038C>G; p.P1680A; 9:8341178-8341178 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.608G>A; p.G203E; 9:8524996-8524996 |
skin | malignant_melanoma | Substitution - Missense |
c.608G>A; p.G203E; 9:8524996-8524996 |
skin | malignant_melanoma | Substitution - Missense |
c.3033C>T; p.F1011F; 9:8485784-8485784 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3033C>T; p.F1011F; 9:8485784-8485784 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.3112T>A; p.W1038R; 9:8485268-8485268 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.608G>A; p.G203E; 9:8524996-8524996 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.3742G>A; p.D1248N; 9:8460544-8460544 |
skin | malignant_melanoma | Substitution - Missense |
c.3263G>T; p.R1088L; 9:8484269-8484269 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.560C>A; p.P187Q; 9:8526635-8526635 |
skin | malignant_melanoma | Substitution - Missense |
c.1805C>T; p.A602V; 9:8504278-8504278 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2263G>A; p.E755K; 9:8499706-8499706 |
skin | malignant_melanoma | Substitution - Missense |
c.2263G>A; p.E755K; 9:8499706-8499706 |
skin | malignant_melanoma | Substitution - Missense |
c.5426C>G; p.P1809R; 9:8331690-8331690 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4300G>A; p.E1434K; 9:8389318-8389318 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.996C>T; p.T332T; 9:8518395-8518395 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.3953C>T; p.P1318L; 9:8449760-8449760 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.4300G>A; p.E1434K; 9:8389318-8389318 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.5698G>A; p.A1900T; 9:8317915-8317915 |
ovary | other; neoplasm | Substitution - Missense |
c.3073C>T; p.H1025Y; 9:8485307-8485307 |
skin | malignant_melanoma | Substitution - Missense |
c.646C>G; p.R216G; 9:8524958-8524958 |
breast | carcinoma | Substitution - Missense |
c.3073C>T; p.H1025Y; 9:8485307-8485307 |
skin | malignant_melanoma | Substitution - Missense |
c.2344G>A; p.E782K; 9:8497247-8497247 |
breast | carcinoma | Substitution - Missense |
c.3975C>T; p.N1325N; 9:8449738-8449738 |
prostate | carcinoma | Substitution - coding silent |
c.536G>A; p.R179Q; 9:8528596-8528596 |
skin | malignant_melanoma | Substitution - Missense |
c.577C>T; p.Q193*; 9:8525027-8525027 |
breast | carcinoma | Substitution - Nonsense |
c.4161G>A; p.A1387A; 9:8404586-8404586 |
skin | malignant_melanoma | Substitution - coding silent |
c.4161G>A; p.A1387A; 9:8404586-8404586 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2792C>A; p.T931N; 9:8486025-8486025 |
skin | malignant_melanoma | Substitution - Missense |
c.3304A>C; p.K1102Q; 9:8484228-8484228 |
skin | malignant_melanoma | Substitution - Missense |
c.4161G>A; p.A1387A; 9:8404586-8404586 |
skin | malignant_melanoma | Substitution - coding silent |
c.5038C>T; p.P1680S; 9:8341178-8341178 |
skin | malignant_melanoma | Substitution - Missense |
c.2104G>A; p.V702M; 9:8500778-8500778 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5038C>T; p.P1680S; 9:8341178-8341178 |
skin | malignant_melanoma | Substitution - Missense |
c.2619C>A; p.F873L; 9:8486198-8486198 |
breast | carcinoma | Substitution - Missense |
c.2189T>G; p.V730G; 9:8499780-8499780 |
thyroid | other; neoplasm | Substitution - Missense |
c.5109T>G; p.S1703R; 9:8341107-8341107 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4129T>G; p.L1377V; 9:8404618-8404618 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2215A>C; p.K739Q; 9:8499754-8499754 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.747A>T; p.P249P; 9:8521491-8521491 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1462T>G; p.Y488D; 9:8517929-8517929 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.335G>A; p.R112K; 9:8633334-8633334 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2404G>A; p.A802T; 9:8492925-8492925 |
skin | malignant_melanoma | Substitution - Missense |
c.2322+3A>C; p.?; 9:8499644-8499644 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.4665G>T; p.A1555A; 9:8341975-8341975 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3484G>A; p.D1162N; 9:8471015-8471015 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.741C>T; p.I247I; 9:8521497-8521497 |
skin | malignant_melanoma | Substitution - coding silent |
c.4573C>G; p.P1525A; 9:8376024-8376024 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4619C>T; p.T1540I; 9:8375978-8375978 |
skin | malignant_melanoma | Substitution - Missense |
c.3714+1G>T; p.?; 9:8465465-8465465 |
lung | carcinoma; adenocarcinoma | Unknown |
c.3301G>T; p.A1101S; 9:8484231-8484231 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.199C>G; p.Q67E; 9:8636710-8636710 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3262C>T; p.R1088C; 9:8484270-8484270 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4607G>A; p.R1536H; 9:8375990-8375990 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2655C>T; p.I885I; 9:8486162-8486162 |
skin | malignant_melanoma | Substitution - coding silent |
c.3262C>T; p.R1088C; 9:8484270-8484270 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4607G>A; p.R1536H; 9:8375990-8375990 |
thyroid | carcinoma | Substitution - Missense |
c.2555C>T; p.P852L; 9:8486262-8486262 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2555C>T; p.P852L; 9:8486262-8486262 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3609C>A; p.F1203L; 9:8465571-8465571 |
breast | carcinoma | Substitution - Missense |
c.2971G>A; p.D991N; 9:8485846-8485846 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5148T>A; p.A1716A; 9:8340448-8340448 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2114G>A; p.R705Q; 9:8500768-8500768 |
skin | malignant_melanoma | Substitution - Missense |
c.1109T>G; p.I370S; 9:8518282-8518282 |
liver | carcinoma | Substitution - Missense |
c.3522T>A; p.S1174S; 9:8465658-8465658 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.2969A>T; p.Y990F; 9:8485848-8485848 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1954G>A; p.V652M; 9:8500928-8500928 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.2114G>A; p.R705Q; 9:8500768-8500768 |
skin | malignant_melanoma | Substitution - Missense |
c.5673T>C; p.D1891D; 9:8317940-8317940 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2924C>T; p.A975V; 9:8485893-8485893 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4238C>A; p.A1413D; 9:8389380-8389380 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3420C>T; p.Y1140Y; 9:8471079-8471079 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2431C>T; p.R811C; 9:8492898-8492898 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3545A>T; p.Y1182F; 9:8465635-8465635 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1752T>C; p.R584R; 9:8504331-8504331 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1752T>C; p.R584R; 9:8504331-8504331 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1095A>C; p.E365D; 9:8518296-8518296 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1752T>C; p.R584R; 9:8504331-8504331 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1752T>C; p.R584R; 9:8504331-8504331 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4375G>A; p.E1459K; 9:8389243-8389243 |
pancreas | carcinoma | Substitution - Missense |
c.4549A>C; p.T1517P; 9:8376048-8376048 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.776C>T; p.A259V; 9:8521462-8521462 |
skin | malignant_melanoma | Substitution - Missense |
c.1532C>A; p.T511N; 9:8517859-8517859 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5447C>A; p.S1816Y; 9:8331669-8331669 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.4934A>C; p.E1645A; 9:8341706-8341706 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.698G>A; p.R233H; 9:8521540-8521540 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.263G>A; p.R88Q; 9:8633406-8633406 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2970C>T; p.Y990Y; 9:8485847-8485847 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3452G>A; p.R1151H; 9:8471047-8471047 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.2595G>T; p.M865I; 9:8486222-8486222 |
prostate | carcinoma | Substitution - Missense |
c.460G>T; p.D154Y; 9:8528672-8528672 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.460G>T; p.D154Y; 9:8528672-8528672 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3452G>A; p.R1151H; 9:8471047-8471047 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1762C>T; p.R588C; 9:8504321-8504321 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.5562C>T; p.F1854F; 9:8319939-8319939 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.865C>A; p.L289I; 9:8521373-8521373 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2458A>C; p.T820P; 9:8492871-8492871 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1458A>T; p.K486N; 9:8517933-8517933 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.658C>T; p.P220S; 9:8524946-8524946 |
skin | malignant_melanoma | Substitution - Missense |
c.1082A>C; p.K361T; 9:8518309-8518309 |
skin | malignant_melanoma | Substitution - Missense |
c.226G>A; p.D76N; 9:8633443-8633443 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2749G>A; p.V917I; 9:8486068-8486068 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3415G>T; p.G1139C; 9:8471084-8471084 |
large_intestine; rectum | NS | Substitution - Missense |
c.3744C>T; p.D1248D; 9:8460542-8460542 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.183A>G; p.G61G; 9:8636726-8636726 |
liver | carcinoma | Substitution - coding silent |
c.183A>G; p.G61G; 9:8636726-8636726 |
liver | carcinoma | Substitution - coding silent |
c.1990G>T; p.G664*; 9:8500892-8500892 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.226G>A; p.D76N; 9:8633443-8633443 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1037G>A; p.G346E; 9:8518354-8518354 |
skin | malignant_melanoma | Substitution - Missense |
c.4776G>A; p.R1592R; 9:8341864-8341864 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5260T>G; p.C1754G; 9:8339041-8339041 |
skin; ear | malignant_melanoma | Substitution - Missense |
c.3073C>G; p.H1025D; 9:8485307-8485307 |
breast | carcinoma | Substitution - Missense |
c.4764G>T; p.M1588I; 9:8341876-8341876 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4433G>A; p.G1478E; 9:8376680-8376680 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3770C>T; p.P1257L; 9:8460516-8460516 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3770C>T; p.P1257L; 9:8460516-8460516 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2511T>G; p.N837K; 9:8486306-8486306 |
thyroid | other; neoplasm | Substitution - Missense |
c.2993C>T; p.T998M; 9:8485824-8485824 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3770C>T; p.P1257L; 9:8460516-8460516 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1355G>T; p.R452I; 9:8518036-8518036 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1971C>T; p.D657D; 9:8500911-8500911 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2237G>T; p.G746V; 9:8499732-8499732 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3253C>T; p.L1085L; 9:8484279-8484279 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.4914A>C; p.G1638G; 9:8341726-8341726 |
breast | carcinoma | Substitution - coding silent |
c.3521C>A; p.S1174Y; 9:8465659-8465659 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.2631A>G; p.E877E; 9:8486186-8486186 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5239C>T; p.R1747C; 9:8340357-8340357 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5239C>T; p.R1747C; 9:8340357-8340357 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3582T>C; p.A1194A; 9:8465598-8465598 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1496G>T; p.G499V; 9:8517895-8517895 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.857G>C; p.R286T; 9:8521381-8521381 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3325C>G; p.R1109G; 9:8484207-8484207 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3122C>T; p.P1041L; 9:8485258-8485258 |
skin; lower_leg | malignant_melanoma | Substitution - Missense |
c.5049C>T; p.S1683S; 9:8341167-8341167 |
skin | malignant_melanoma | Substitution - coding silent |
c.3609C>T; p.F1203F; 9:8465571-8465571 |
skin | malignant_melanoma | Substitution - coding silent |
c.3493G>A; p.E1165K; 9:8471006-8471006 |
skin | malignant_melanoma | Substitution - Missense |
c.5048C>T; p.S1683F; 9:8341168-8341168 |
breast | carcinoma | Substitution - Missense |
c.50G>A; p.R17H; 9:8733794-8733794 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5087G>T; p.G1696V; 9:8341129-8341129 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3966G>A; p.R1322R; 9:8449747-8449747 |
skin | malignant_melanoma | Substitution - coding silent |
c.547A>C; p.I183L; 9:8527348-8527348 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.694C>T; p.R232C; 9:8521544-8521544 |
skin | malignant_melanoma | Substitution - Missense |
c.694C>T; p.R232C; 9:8521544-8521544 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1809A>G; p.R603R; 9:8504274-8504274 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3437C>A; p.P1146H; 9:8471062-8471062 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4292C>A; p.S1431Y; 9:8389326-8389326 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.694C>T; p.R232C; 9:8521544-8521544 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.694C>T; p.R232C; 9:8521544-8521544 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.161A>C; p.K54T; 9:8636748-8636748 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5109T>C; p.S1703S; 9:8341107-8341107 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1267G>A; p.D423N; 9:8518124-8518124 |
skin | malignant_melanoma | Substitution - Missense |
c.4292C>A; p.S1431Y; 9:8389326-8389326 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3007G>A; p.G1003R; 9:8485810-8485810 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2539G>A; p.V847M; 9:8486278-8486278 |
skin | malignant_melanoma | Substitution - Missense |
c.5086G>A; p.G1696R; 9:8341130-8341130 |
skin | malignant_melanoma | Substitution - Missense |
c.3926A>G; p.E1309G; 9:8449787-8449787 |
prostate | carcinoma | Substitution - Missense |
c.2628A>G; p.K876K; 9:8486189-8486189 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3348G>A; p.G1116G; 9:8484184-8484184 |
skin | malignant_melanoma | Substitution - coding silent |
c.1111G>A; p.D371N; 9:8518280-8518280 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3007G>A; p.G1003R; 9:8485810-8485810 |
skin; shoulder | malignant_melanoma | Substitution - Missense |
c.5723A>G; p.D1908G; 9:8317890-8317890 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.866T>C; p.L289P; 9:8521372-8521372 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4187G>A; p.R1396Q; 9:8404560-8404560 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.145G>A; p.G49R; 9:8636764-8636764 |
skin | malignant_melanoma | Substitution - Missense |
c.1490C>T; p.S497L; 9:8517901-8517901 |
skin | malignant_melanoma | Substitution - Missense |
c.5459T>G; p.F1820C; 9:8331657-8331657 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.866T>C; p.L289P; 9:8521372-8521372 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.866T>C; p.L289P; 9:8521372-8521372 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2866C>A; p.L956I; 9:8485951-8485951 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2411C>A; p.T804K; 9:8492918-8492918 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2094G>A; p.E698E; 9:8500788-8500788 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4625A>G; p.N1542S; 9:8375972-8375972 |
skin | malignant_melanoma | Substitution - Missense |
c.1394A>G; p.N465S; 9:8517997-8517997 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1025C>T; p.T342M; 9:8518366-8518366 |
breast | carcinoma | Substitution - Missense |
c.4159G>A; p.A1387T; 9:8404588-8404588 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5709C>T; p.Y1903Y; 9:8317904-8317904 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2898C>T; p.L966L; 9:8485919-8485919 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5709C>T; p.Y1903Y; 9:8317904-8317904 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.4159G>A; p.A1387T; 9:8404588-8404588 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1145G>T; p.G382V; 9:8518246-8518246 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2140C>T; p.P714S; 9:8499829-8499829 |
skin | malignant_melanoma | Substitution - Missense |
c.3739T>A; p.S1247T; 9:8460547-8460547 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3268A>C; p.N1090H; 9:8484264-8484264 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5393G>T; p.R1798L; 9:8331723-8331723 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3531C>T; p.R1177R; 9:8465649-8465649 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.82C>T; p.R28*; 9:8636827-8636827 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1324G>T; p.E442*; 9:8518067-8518067 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.132C>T; p.I44I; 9:8636777-8636777 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1320A>C; p.E440D; 9:8518071-8518071 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1894C>T; p.P632S; 9:8500988-8500988 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3870T>A; p.Y1290*; 9:8460416-8460416 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3189G>T; p.V1063V; 9:8484343-8484343 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.769T>C; p.C257R; 9:8521469-8521469 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3719T>G; p.M1240R; 9:8460567-8460567 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3106C>A; p.L1036M; 9:8485274-8485274 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4498C>A; p.L1500I; 9:8376615-8376615 |
prostate | adenoma | Substitution - Missense |
c.2508G>T; p.M836I; 9:8486309-8486309 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1448T>A; p.V483E; 9:8517943-8517943 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.574C>T; p.L192F; 9:8525030-8525030 |
skin | malignant_melanoma | Substitution - Missense |
c.2825C>T; p.P942L; 9:8485992-8485992 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3770C>G; p.P1257R; 9:8460516-8460516 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1677G>C; p.E559D; 9:8507301-8507301 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.5214C>A; p.T1738T; 9:8340382-8340382 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.756C>T; p.S252S; 9:8521482-8521482 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.130A>G; p.I44V; 9:8636779-8636779 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2789C>G; p.T930S; 9:8486028-8486028 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3049G>C; p.D1017H; 9:8485768-8485768 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.697C>T; p.R233C; 9:8521541-8521541 |
skin | malignant_melanoma | Substitution - Missense |
c.599C>T; p.S200F; 9:8525005-8525005 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4939G>A; p.E1647K; 9:8341701-8341701 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5648G>A; p.R1883Q; 9:8319853-8319853 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.782G>T; p.G261V; 9:8521456-8521456 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3485A>G; p.D1162G; 9:8471014-8471014 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2926G>T; p.D976Y; 9:8485891-8485891 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.299C>A; p.A100D; 9:8633370-8633370 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4537C>A; p.Q1513K; 9:8376060-8376060 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4103A>T; p.Q1368L; 9:8404644-8404644 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.5107A>G; p.S1703G; 9:8341109-8341109 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3485A>G; p.D1162G; 9:8471014-8471014 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3219C>T; p.V1073V; 9:8484313-8484313 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.56A>T; p.D19V; 9:8733788-8733788 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.4333G>A; p.E1445K; 9:8389285-8389285 |
skin | malignant_melanoma | Substitution - Missense |
c.313G>A; p.G105R; 9:8633356-8633356 |
skin | malignant_melanoma | Substitution - Missense |
c.4333G>A; p.E1445K; 9:8389285-8389285 |
skin | malignant_melanoma | Substitution - Missense |
c.313G>A; p.G105R; 9:8633356-8633356 |
skin | malignant_melanoma | Substitution - Missense |
c.1600C>G; p.L534V; 9:8507378-8507378 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4867A>T; p.R1623*; 9:8341773-8341773 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.3210G>C; p.K1070N; 9:8484322-8484322 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1299C>T; p.T433T; 9:8518092-8518092 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4333G>A; p.E1445K; 9:8389285-8389285 |
skin | malignant_melanoma | Substitution - Missense |
c.1292C>A; p.S431*; 9:8518099-8518099 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4841C>G; p.T1614S; 9:8341799-8341799 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.10G>A; p.V4I; 9:8733834-8733834 |
pancreas | carcinoma | Substitution - Missense |
c.200A>T; p.Q67L; 9:8636709-8636709 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3504+2T>C; p.?; 9:8470993-8470993 |
skin | malignant_melanoma | Unknown |
c.917C>T; p.S306L; 9:8521321-8521321 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1277C>A; p.A426E; 9:8518114-8518114 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4304C>T; p.T1435I; 9:8389314-8389314 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.4304C>T; p.T1435I; 9:8389314-8389314 |
haematopoietic_and_lymphoid_tissue; small_intestine | lymphoid_neoplasm; enteropathy_type_T_cell_lymphoma | Substitution - Missense |
c.1835C>T; p.P612L; 9:8501047-8501047 |
skin | malignant_melanoma | Substitution - Missense |
c.422G>A; p.R141H; 9:8528710-8528710 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1130G>A; p.R377H; 9:8518261-8518261 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.422G>A; p.R141H; 9:8528710-8528710 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2183T>G; p.V728G; 9:8499786-8499786 |
skin | malignant_melanoma | Substitution - Missense |
c.2326G>A; p.E776K; 9:8497265-8497265 |
skin | malignant_melanoma | Substitution - Missense |
c.1036G>T; p.G346W; 9:8518355-8518355 |
pancreas | carcinoma | Substitution - Missense |
c.1996_1997CC>TT; p.P666F; 9:8500885-8500886 |
skin | malignant_melanoma | Substitution - Missense |
c.1036G>T; p.G346W; 9:8518355-8518355 |
pancreas | carcinoma | Substitution - Missense |
c.1764C>A; p.R588R; 9:8504319-8504319 |
ovary | other; neoplasm | Substitution - coding silent |
c.2326G>A; p.E776K; 9:8497265-8497265 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3530G>T; p.R1177L; 9:8465650-8465650 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4594C>G; p.L1532V; 9:8376003-8376003 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4749C>A; p.G1583G; 9:8341891-8341891 |
ovary | other; neoplasm | Substitution - coding silent |
c.3173A>G; p.K1058R; 9:8484359-8484359 |
breast | carcinoma | Substitution - Missense |
c.3925G>A; p.E1309K; 9:8449788-8449788 |
pancreas | carcinoma | Substitution - Missense |
c.2220G>A; p.Q740Q; 9:8499749-8499749 |
skin | malignant_melanoma | Substitution - coding silent |
c.4346C>G; p.A1449G; 9:8389272-8389272 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5428G>A; p.E1810K; 9:8331688-8331688 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.550G>T; p.G184C; 9:8527345-8527345 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5409C>T; p.F1803F; 9:8331707-8331707 |
skin | malignant_melanoma | Substitution - coding silent |
c.2122G>A; p.E708K; 9:8500760-8500760 |
skin | malignant_melanoma | Substitution - Missense |
c.4486C>T; p.R1496*; 9:8376627-8376627 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.246C>T; p.L82L; 9:8633423-8633423 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.4947G>T; p.K1649N; 9:8341693-8341693 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3652C>A; p.Q1218K; 9:8465528-8465528 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.2920C>T; p.P974S; 9:8485897-8485897 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.4338A>G; p.Q1446Q; 9:8389280-8389280 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2984G>A; p.R995H; 9:8485833-8485833 |
oesophagus | carcinoma | Substitution - Missense |
c.777C>A; p.A259A; 9:8521461-8521461 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2633A>T; p.D878V; 9:8486184-8486184 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4732_4733insA; p.T1578fs*30; 9:8341907-8341908 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.5068C>T; p.P1690S; 9:8341148-8341148 |
skin; face | malignant_melanoma | Substitution - Missense |
c.5473G>C; p.G1825R; 9:8331643-8331643 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5390C>A; p.S1797Y; 9:8331726-8331726 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4913G>C; p.G1638A; 9:8341727-8341727 |
breast | carcinoma | Substitution - Missense |
c.1191T>A; p.N397K; 9:8518200-8518200 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4913G>C; p.G1638A; 9:8341727-8341727 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5588G>T; p.R1863I; 9:8319913-8319913 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1206G>A; p.G402G; 9:8518185-8518185 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1272C>T; p.V424V; 9:8518119-8518119 |
breast | carcinoma | Substitution - coding silent |
c.817G>A; p.A273T; 9:8521421-8521421 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.4449G>A; p.T1483T; 9:8376664-8376664 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.5402G>T; p.R1801M; 9:8331714-8331714 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.749G>A; p.G250D; 9:8521489-8521489 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1272C>T; p.V424V; 9:8518119-8518119 |
skin | malignant_melanoma | Substitution - coding silent |
c.817G>A; p.A273T; 9:8521421-8521421 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3618G>A; p.G1206G; 9:8465562-8465562 |
skin | malignant_melanoma | Substitution - coding silent |
c.4253G>C; p.G1418A; 9:8389365-8389365 |
skin | malignant_melanoma | Substitution - Missense |
c.1261_1262CC>TT; p.P421L; 9:8518129-8518130 |
skin | malignant_melanoma | Substitution - Missense |
c.441T>C; p.C147C; 9:8528691-8528691 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4966G>T; p.A1656S; 9:8341250-8341250 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4947+1G>A; p.?; 9:8341692-8341692 |
skin | malignant_melanoma | Unknown |
c.5542G>A; p.V1848I; 9:8319959-8319959 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.84A>G; p.R28R; 9:8636825-8636825 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1516G>A; p.D506N; 9:8517875-8517875 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.4129T>C; p.L1377L; 9:8404618-8404618 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.610A>C; p.K204Q; 9:8524994-8524994 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.607G>C; p.G203R; 9:8524997-8524997 |
skin | malignant_melanoma | Substitution - Missense |
c.3787G>A; p.E1263K; 9:8460499-8460499 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4163A>G; p.N1388S; 9:8404584-8404584 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.3067A>C; p.N1023H; 9:8485313-8485313 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1168G>A; p.E390K; 9:8518223-8518223 |
skin | malignant_melanoma | Substitution - Missense |
c.4885A>C; p.I1629L; 9:8341755-8341755 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1510T>C; p.S504P; 9:8517881-8517881 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4861C>T; p.P1621S; 9:8341779-8341779 |
liver | carcinoma | Substitution - Missense |
c.4861C>T; p.P1621S; 9:8341779-8341779 |
liver | carcinoma | Substitution - Missense |
c.4861C>T; p.P1621S; 9:8341779-8341779 |
liver | carcinoma | Substitution - Missense |
c.3157C>T; p.L1053F; 9:8484375-8484375 |
skin | malignant_melanoma | Substitution - Missense |
c.2846G>A; p.G949D; 9:8485971-8485971 |
liver | carcinoma | Substitution - Missense |
c.2846G>A; p.G949D; 9:8485971-8485971 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3110C>T; p.S1037F; 9:8485270-8485270 |
skin | malignant_melanoma | Substitution - Missense |
c.830C>A; p.T277K; 9:8521408-8521408 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5584G>A; p.E1862K; 9:8319917-8319917 |
skin | malignant_melanoma | Substitution - Missense |
c.5256G>T; p.E1752D; 9:8339045-8339045 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3764T>C; p.L1255P; 9:8460522-8460522 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3232G>C; p.E1078Q; 9:8484300-8484300 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4729A>T; p.K1577*; 9:8341911-8341911 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2445A>G; p.K815K; 9:8492884-8492884 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3114G>A; p.W1038*; 9:8485266-8485266 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.5119G>A; p.G1707R; 9:8341097-8341097 |
skin; shoulder | malignant_melanoma | Substitution - Missense |
c.1498G>A; p.D500N; 9:8517893-8517893 |
skin | malignant_melanoma | Substitution - Missense |
c.554G>C; p.G185A; 9:8526641-8526641 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.3426A>G; p.I1142M; 9:8471073-8471073 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.3192T>C; p.D1064D; 9:8484340-8484340 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2169C>A; p.V723V; 9:8499800-8499800 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3707C>T; p.A1236V; 9:8465473-8465473 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5494G>A; p.E1832K; 9:8331622-8331622 |
skin | malignant_melanoma | Substitution - Missense |
c.3256A>G; p.T1086A; 9:8484276-8484276 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1201C>T; p.R401W; 9:8518190-8518190 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4081T>C; p.Y1361H; 9:8436597-8436597 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3669A>T; p.Q1223H; 9:8465511-8465511 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.877G>A; p.D293N; 9:8521361-8521361 |
skin | malignant_melanoma | Substitution - Missense |
c.5158C>T; p.P1720S; 9:8340438-8340438 |
skin | malignant_melanoma | Substitution - Missense |
c.2716G>A; p.E906K; 9:8486101-8486101 |
skin | malignant_melanoma | Substitution - Missense |
c.1548A>G; p.P516P; 9:8507430-8507430 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5120G>A; p.G1707E; 9:8341096-8341096 |
skin | malignant_melanoma | Substitution - Missense |
c.856A>C; p.R286R; 9:8521382-8521382 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4296C>T; p.L1432L; 9:8389322-8389322 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.537A>C; p.R179R; 9:8528595-8528595 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.83G>T; p.R28L; 9:8636826-8636826 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1204G>A; p.G402R; 9:8518187-8518187 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2256G>A; p.V752V; 9:8499713-8499713 |
skin | malignant_melanoma | Substitution - coding silent |
c.4758T>G; p.T1586T; 9:8341882-8341882 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4817A>C; p.H1606P; 9:8341823-8341823 |
breast | carcinoma | Substitution - Missense |
c.1507C>G; p.L503V; 9:8517884-8517884 |
liver | carcinoma | Substitution - Missense |
c.5254G>T; p.E1752*; 9:8339047-8339047 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1371G>A; p.M457I; 9:8518020-8518020 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1180G>A; p.V394I; 9:8518211-8518211 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5355G>A; p.R1785R; 9:8338946-8338946 |
skin | malignant_melanoma | Substitution - coding silent |
c.538_539TC>AA; p.S180K; 9:8528593-8528594 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5687C>T; p.S1896F; 9:8317926-8317926 |
skin | malignant_melanoma | Substitution - Missense |
c.5687C>T; p.S1896F; 9:8317926-8317926 |
skin | malignant_melanoma | Substitution - Missense |
c.1823-1G>A; p.?; 9:8501060-8501060 |
skin | malignant_melanoma | Unknown |
c.3817C>T; p.P1273S; 9:8460469-8460469 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2001G>A; p.S667S; 9:8500881-8500881 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.3115G>A; p.E1039K; 9:8485265-8485265 |
skin; chest | malignant_melanoma | Substitution - Missense |
c.1292C>T; p.S431L; 9:8518099-8518099 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.294T>C; p.C98C; 9:8633375-8633375 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1292C>T; p.S431L; 9:8518099-8518099 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4640G>C; p.G1547A; 9:8375957-8375957 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.274G>C; p.D92H; 9:8633395-8633395 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1292C>T; p.S431L; 9:8518099-8518099 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3108G>A; p.L1036L; 9:8485272-8485272 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.662C>T; p.A221V; 9:8524942-8524942 |
liver | carcinoma | Substitution - Missense |
c.542-3C>A; p.?; 9:8527356-8527356 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.2205C>T; p.P735P; 9:8499764-8499764 |
thyroid | carcinoma | Substitution - coding silent |
c.4352T>C; p.V1451A; 9:8389266-8389266 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1292C>T; p.S431L; 9:8518099-8518099 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4775G>T; p.R1592M; 9:8341865-8341865 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3403G>A; p.E1135K; 9:8484129-8484129 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5316T>A; p.D1772E; 9:8338985-8338985 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1292C>T; p.S431L; 9:8518099-8518099 |
skin | malignant_melanoma | Substitution - Missense |
c.1292C>T; p.S431L; 9:8518099-8518099 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.3093G>C; p.K1031N; 9:8485287-8485287 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3107T>A; p.L1036Q; 9:8485273-8485273 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5482C>T; p.H1828Y; 9:8331634-8331634 |
skin | malignant_melanoma | Substitution - Missense |
c.5671G>A; p.D1891N; 9:8317942-8317942 |
skin | malignant_melanoma | Substitution - Missense |
c.1505C>T; p.P502L; 9:8517886-8517886 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.3325C>T; p.R1109C; 9:8484207-8484207 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.535C>T; p.R179*; 9:8528597-8528597 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1625A>C; p.D542A; 9:8507353-8507353 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2102C>T; p.S701F; 9:8500780-8500780 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2237G>A; p.G746E; 9:8499732-8499732 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4067A>G; p.K1356R; 9:8436611-8436611 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3048G>T; p.V1016V; 9:8485769-8485769 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2504A>T; p.Q835L; 9:8486313-8486313 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1452C>T; p.P484P; 9:8517939-8517939 |
liver | carcinoma | Substitution - coding silent |
c.4505A>T; p.K1502M; 9:8376608-8376608 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1452C>T; p.P484P; 9:8517939-8517939 |
liver | carcinoma | Substitution - coding silent |
c.3474G>A; p.W1158*; 9:8471025-8471025 |
skin | malignant_melanoma | Substitution - Nonsense |
c.5013C>G; p.F1671L; 9:8341203-8341203 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3745C>A; p.P1249T; 9:8460541-8460541 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4921G>T; p.V1641F; 9:8341719-8341719 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.539C>T; p.S180L; 9:8528593-8528593 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1153C>T; p.P385S; 9:8518238-8518238 |
skin | malignant_melanoma | Substitution - Missense |
c.1989G>T; p.L663F; 9:8500893-8500893 |
skin | malignant_melanoma | Substitution - Missense |
c.364C>T; p.P122S; 9:8528768-8528768 |
skin | malignant_melanoma | Substitution - Missense |
c.1153C>T; p.P385S; 9:8518238-8518238 |
skin | malignant_melanoma | Substitution - Missense |
c.3542G>A; p.R1181H; 9:8465638-8465638 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4030G>A; p.D1344N; 9:8436648-8436648 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.364C>T; p.P122S; 9:8528768-8528768 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.4636G>A; p.A1546T; 9:8375961-8375961 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2088C>A; p.G696G; 9:8500794-8500794 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2112T>C; p.I704I; 9:8500770-8500770 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5069C>T; p.P1690L; 9:8341147-8341147 |
skin; face | malignant_melanoma | Substitution - Missense |
c.2205C>A; p.P735P; 9:8499764-8499764 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4773G>A; p.Q1591Q; 9:8341867-8341867 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.572C>A; p.A191D; 9:8525032-8525032 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3841A>G; p.I1281V; 9:8460445-8460445 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5706G>T; p.E1902D; 9:8317907-8317907 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.5735C>A; p.T1912K; 9:8317878-8317878 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4105C>G; p.Q1369E; 9:8404642-8404642 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2147G>A; p.R716H; 9:8499822-8499822 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.2715G>A; p.E905E; 9:8486102-8486102 |
skin | malignant_melanoma | Substitution - coding silent |
c.2147G>A; p.R716H; 9:8499822-8499822 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3763C>T; p.L1255L; 9:8460523-8460523 |
skin | malignant_melanoma | Substitution - coding silent |
c.328delT; p.S110fs*25; 9:8633341-8633341 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.5728T>A; p.Y1910N; 9:8317885-8317885 |
skin | malignant_melanoma | Substitution - Missense |
c.4607G>T; p.R1536L; 9:8375990-8375990 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4987A>G; p.S1663G; 9:8341229-8341229 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1720G>T; p.G574*; 9:8504363-8504363 |
breast | carcinoma | Substitution - Nonsense |
c.1378A>T; p.T460S; 9:8518013-8518013 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1322C>A; p.P441H; 9:8518069-8518069 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5216T>C; p.I1739T; 9:8340380-8340380 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1716G>C; p.L572L; 9:8504367-8504367 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4249G>A; p.D1417N; 9:8389369-8389369 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1401G>A; p.M467I; 9:8517990-8517990 |
skin | malignant_melanoma | Substitution - Missense |
c.5390C>T; p.S1797F; 9:8331726-8331726 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1569A>G; p.K523K; 9:8507409-8507409 |
breast | carcinoma | Substitution - coding silent |
c.3390A>G; p.E1130E; 9:8484142-8484142 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5403G>T; p.R1801S; 9:8331713-8331713 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.407T>G; p.V136G; 9:8528725-8528725 |
breast | carcinoma | Substitution - Missense |
c.1862C>T; p.P621L; 9:8501020-8501020 |
skin | malignant_melanoma | Substitution - Missense |
c.4455T>C; p.L1485L; 9:8376658-8376658 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2869C>A; p.L957I; 9:8485948-8485948 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5503G>T; p.G1835C; 9:8331613-8331613 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2774T>A; p.L925H; 9:8486043-8486043 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5356G>A; p.E1786K; 9:8338945-8338945 |
skin | malignant_melanoma | Substitution - Missense |
c.5171C>T; p.T1724I; 9:8340425-8340425 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.2626A>T; p.K876*; 9:8486191-8486191 |
skin; shoulder | malignant_melanoma | Substitution - Nonsense |
c.3464T>C; p.I1155T; 9:8471035-8471035 |
oesophagus | carcinoma | Substitution - Missense |
c.4429C>T; p.H1477Y; 9:8376684-8376684 |
skin; shoulder | malignant_melanoma | Substitution - Missense |
c.695G>A; p.R232H; 9:8521543-8521543 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2079C>T; p.V693V; 9:8500803-8500803 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.934G>A; p.E312K; 9:8521304-8521304 |
skin | malignant_melanoma | Substitution - Missense |
c.3553G>T; p.E1185*; 9:8465627-8465627 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.962-9C>G; p.?; 9:8518438-8518438 |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma; SHH_subtype | Unknown |
c.761A>G; p.N254S; 9:8521477-8521477 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.203G>T; p.R68I; 9:8636706-8636706 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3364G>A; p.G1122S; 9:8484168-8484168 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1996C>T; p.P666S; 9:8500886-8500886 |
skin | malignant_melanoma | Substitution - Missense |
c.1551G>C; p.G517G; 9:8507427-8507427 |
liver | carcinoma | Substitution - coding silent |
c.408G>A; p.V136V; 9:8528724-8528724 |
breast | carcinoma | Substitution - coding silent |
c.1849A>G; p.S617G; 9:8501033-8501033 |
thyroid | carcinoma | Substitution - Missense |
c.1628C>T; p.T543I; 9:8507350-8507350 |
skin | malignant_melanoma | Substitution - Missense |
c.5358A>C; p.E1786D; 9:8338943-8338943 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4164T>A; p.N1388K; 9:8404583-8404583 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3747C>T; p.P1249P; 9:8460539-8460539 |
skin | malignant_melanoma | Substitution - coding silent |
c.1628C>T; p.T543I; 9:8507350-8507350 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.343G>A; p.V115I; 9:8633326-8633326 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1215C>T; p.S405S; 9:8518176-8518176 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3699G>A; p.M1233I; 9:8465481-8465481 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1922T>C; p.I641T; 9:8500960-8500960 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1215C>T; p.S405S; 9:8518176-8518176 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1577C>T; p.P526L; 9:8507401-8507401 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.5692C>T; p.R1898C; 9:8317921-8317921 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5395A>G; p.T1799A; 9:8331721-8331721 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5692C>T; p.R1898C; 9:8317921-8317921 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2420G>A; p.G807E; 9:8492909-8492909 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2420G>A; p.G807E; 9:8492909-8492909 |
skin | malignant_melanoma | Substitution - Missense |
c.5692C>T; p.R1898C; 9:8317921-8317921 |
prostate | adenoma | Substitution - Missense |
c.5692C>T; p.R1898C; 9:8317921-8317921 |
breast | carcinoma | Substitution - Missense |
c.5692C>T; p.R1898C; 9:8317921-8317921 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.385G>T; p.D129Y; 9:8528747-8528747 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3481C>A; p.P1161T; 9:8471018-8471018 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5527C>T; p.H1843Y; 9:8331589-8331589 |
skin | malignant_melanoma | Substitution - Missense |
c.778G>A; p.V260M; 9:8521460-8521460 |
pleura | pulmonary_blastoma | Substitution - Missense |
c.1160C>T; p.S387L; 9:8518231-8518231 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1141G>T; p.A381S; 9:8518250-8518250 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2983C>T; p.R995C; 9:8485834-8485834 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2904G>A; p.M968I; 9:8485913-8485913 |
skin | malignant_melanoma | Substitution - Missense |
c.2891C>T; p.P964L; 9:8485926-8485926 |
skin | malignant_melanoma | Substitution - Missense |
c.3896C>A; p.S1299Y; 9:8449817-8449817 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3157C>G; p.L1053V; 9:8484375-8484375 |
NS | NS | Substitution - Missense |
c.143C>T; p.T48M; 9:8636766-8636766 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>A; p.R179R; 9:8528597-8528597 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2445A>C; p.K815N; 9:8492884-8492884 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.854G>A; p.G285E; 9:8521384-8521384 |
skin | malignant_melanoma | Substitution - Missense |
c.2196G>T; p.W732C; 9:8499773-8499773 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - Missense |
c.1817A>G; p.Q606R; 9:8504266-8504266 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3243_3244insATCATA; p.Y1081_S1082insII; 9:8484288-8484289 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - In frame |
c.4447A>G; p.T1483A; 9:8376666-8376666 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.5116G>A; p.D1706N; 9:8341100-8341100 |
skin | malignant_melanoma | Substitution - Missense |
c.823G>A; p.D275N; 9:8521415-8521415 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1495G>T; p.G499*; 9:8517896-8517896 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.675C>T; p.V225V; 9:8524929-8524929 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1629C>T; p.T543T; 9:8507349-8507349 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.521G>T; p.R174L; 9:8528611-8528611 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5704G>C; p.E1902Q; 9:8317909-8317909 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5393G>A; p.R1798Q; 9:8331723-8331723 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.369G>T; p.R123S; 9:8528763-8528763 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5393G>A; p.R1798Q; 9:8331723-8331723 |
prostate | carcinoma | Substitution - Missense |
c.675C>T; p.V225V; 9:8524929-8524929 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.5610A>T; p.V1870V; 9:8319891-8319891 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.541+6G>A; p.?; 9:8528585-8528585 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.558A>G; p.T186T; 9:8526637-8526637 |
breast | carcinoma | Substitution - coding silent |
c.217G>C; p.E73Q; 9:8633452-8633452 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.346T>C; p.L116L; 9:8633323-8633323 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3728C>A; p.T1243N; 9:8460558-8460558 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.3886G>C; p.E1296Q; 9:8449827-8449827 |
breast | carcinoma | Substitution - Missense |
c.2388C>A; p.Y796*; 9:8492941-8492941 |
breast | carcinoma | Substitution - Nonsense |
c.943G>A; p.A315T; 9:8521295-8521295 |
liver | carcinoma | Substitution - Missense |
c.217G>C; p.E73Q; 9:8633452-8633452 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.733C>T; p.H245Y; 9:8521505-8521505 |
skin | malignant_melanoma | Substitution - Missense |
c.303A>G; p.S101S; 9:8633366-8633366 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5536G>A; p.A1846T; 9:8319965-8319965 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4904T>C; p.I1635T; 9:8341736-8341736 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1339C>G; p.Q447E; 9:8518052-8518052 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2662G>A; p.G888R; 9:8486155-8486155 |
skin | malignant_melanoma | Substitution - Missense |
c.3124G>T; p.E1042*; 9:8485256-8485256 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1339C>G; p.Q447E; 9:8518052-8518052 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2888T>C; p.I963T; 9:8485929-8485929 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5247_5248GG>AT; p.M1749_G1750>IC; 9:8340348-8340349 |
lung | carcinoma; adenocarcinoma | Complex - compound substitution |
c.4729A>G; p.K1577E; 9:8341911-8341911 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1818G>C; p.Q606H; 9:8504265-8504265 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.3492G>A; p.M1164I; 9:8471007-8471007 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5472C>T; p.I1824I; 9:8331644-8331644 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5461A>G; p.I1821V; 9:8331655-8331655 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.349C>T; p.R117W; 9:8633320-8633320 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.349C>T; p.R117W; 9:8633320-8633320 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.5024T>C; p.L1675P; 9:8341192-8341192 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>A; p.V104M; 9:8633359-8633359 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2432G>A; p.R811H; 9:8492897-8492897 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4738G>C; p.D1580H; 9:8341902-8341902 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1369A>G; p.M457V; 9:8518022-8518022 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4620C>T; p.T1540T; 9:8375977-8375977 |
skin | malignant_melanoma | Substitution - coding silent |
c.364C>A; p.P122T; 9:8528768-8528768 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1488C>A; p.T496T; 9:8517903-8517903 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3002G>A; p.G1001E; 9:8485815-8485815 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3299C>T; p.T1100M; 9:8484233-8484233 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.4000C>T; p.H1334Y; 9:8436678-8436678 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.947A>G; p.Q316R; 9:8521291-8521291 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1763G>T; p.R588L; 9:8504320-8504320 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1675G>A; p.E559K; 9:8507303-8507303 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2661G>T; p.K887N; 9:8486156-8486156 |
skin | malignant_melanoma | Substitution - Missense |
c.53C>T; p.T18M; 9:8733791-8733791 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1517A>G; p.D506G; 9:8517874-8517874 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3477G>A; p.E1159E; 9:8471022-8471022 |
breast | carcinoma | Substitution - coding silent |
c.4679C>G; p.T1560S; 9:8341961-8341961 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1160C>A; p.S387*; 9:8518231-8518231 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2289C>T; p.P763P; 9:8499680-8499680 |
skin | malignant_melanoma | Substitution - coding silent |
c.460G>A; p.D154N; 9:8528672-8528672 |
skin | malignant_melanoma | Substitution - Missense |
c.3589G>T; p.D1197Y; 9:8465591-8465591 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1009A>G; p.T337A; 9:8518382-8518382 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.392G>A; p.G131D; 9:8528740-8528740 |
skin | malignant_melanoma | Substitution - Missense |
c.425C>T; p.T142M; 9:8528707-8528707 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.559C>G; p.P187A; 9:8526636-8526636 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1498G>T; p.D500Y; 9:8517893-8517893 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5710C>G; p.L1904V; 9:8317903-8317903 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2146C>T; p.R716C; 9:8499823-8499823 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1092_1093GG>TT; p.E364_E365>D*; 9:8518298-8518299 |
lung | carcinoma; adenocarcinoma | Complex - compound substitution |
c.3157C>A; p.L1053I; 9:8484375-8484375 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3451C>T; p.R1151C; 9:8471048-8471048 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4815C>T; p.I1605I; 9:8341825-8341825 |
skin | malignant_melanoma | Substitution - coding silent |
c.4855G>T; p.E1619*; 9:8341785-8341785 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3157C>A; p.L1053I; 9:8484375-8484375 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.916T>C; p.S306P; 9:8521322-8521322 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.477G>A; p.W159*; 9:8528655-8528655 |
skin; trunk | malignant_melanoma | Substitution - Nonsense |
c.4423G>T; p.E1475*; 9:8376690-8376690 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3895T>A; p.S1299T; 9:8449818-8449818 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1725G>A; p.L575L; 9:8504358-8504358 |
oesophagus | carcinoma | Substitution - coding silent |
c.2349+1G>T; p.?; 9:8497241-8497241 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.4938C>T; p.L1646L; 9:8341702-8341702 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3952C>A; p.P1318T; 9:8449761-8449761 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2349+1G>T; p.?; 9:8497241-8497241 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.418A>G; p.T140A; 9:8528714-8528714 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.268C>T; p.P90S; 9:8633401-8633401 |
skin | malignant_melanoma | Substitution - Missense |
c.4013C>A; p.P1338H; 9:8436665-8436665 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4763T>C; p.M1588T; 9:8341877-8341877 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4339C>A; p.R1447R; 9:8389279-8389279 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2845G>A; p.G949S; 9:8485972-8485972 |
skin | malignant_melanoma | Substitution - Missense |
c.1536G>T; p.Q512H; 9:8517855-8517855 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2147G>T; p.R716L; 9:8499822-8499822 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.5522C>T; p.S1841L; 9:8331594-8331594 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1720G>A; p.G574R; 9:8504363-8504363 |
skin | malignant_melanoma | Substitution - Missense |
c.845T>C; p.M282T; 9:8521393-8521393 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.352+1G>A; p.?; 9:8633316-8633316 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.3456G>A; p.G1152G; 9:8471043-8471043 |
skin | malignant_melanoma | Substitution - coding silent |
c.3456G>A; p.G1152G; 9:8471043-8471043 |
skin | malignant_melanoma | Substitution - coding silent |
c.748G>T; p.G250C; 9:8521490-8521490 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1252T>C; p.S418P; 9:8518139-8518139 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3632A>G; p.Y1211C; 9:8465548-8465548 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.470T>C; p.I157T; 9:8528662-8528662 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1826C>T; p.P609L; 9:8501056-8501056 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4881C>G; p.A1627A; 9:8341759-8341759 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1158C>T; p.Y386Y; 9:8518233-8518233 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3748G>A; p.V1250M; 9:8460538-8460538 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1354A>G; p.R452G; 9:8518037-8518037 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.5533A>T; p.S1845C; 9:8331583-8331583 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |