General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 65268 |
Name | WNK2 |
Synonymous | WNK lysine deficient protein kinase 2;WNK2;WNK lysine deficient protein kinase 2 |
Definition | antigen NY-CO-43|mitogen-activated protein kinase kinase kinase|protein kinase lysine-deficient 2|protein kinase with no lysine 2|protein kinase, lysine deficient 2|serine/threonine-protein kinase WNK2|serologically defined colon cancer antigen 43 |
Position | 9q22.3 |
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 0.15. |
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.1922delC; p.P641fs*2; 9:93253007-93253007 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1922delC; p.P641fs*2; 9:93253007-93253007 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3111G>C; p.S1037S; 9:93261900-93261900 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3111G>C; p.S1037S; 9:93261900-93261900 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4432G>A; p.A1478T; 9:93289228-93289228 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5463C>T; p.F1821F; 9:93292973-93292973 |
skin | malignant_melanoma | Substitution - coding silent |
c.4432G>A; p.A1478T; 9:93289228-93289228 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2809C>G; p.P937A; 9:93259399-93259399 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.2399C>T; p.P800L; 9:93258989-93258989 |
skin | malignant_melanoma | Substitution - Missense |
c.5085A>G; p.T1695T; 9:93292595-93292595 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5061G>T; p.E1687D; 9:93292571-93292571 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3016G>T; p.G1006W; 9:93259606-93259606 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6548C>T; p.P2183L; 9:93317596-93317596 |
skin | malignant_melanoma | Substitution - Missense |
c.3316G>C; p.E1106Q; 9:93262105-93262105 |
liver | carcinoma | Substitution - Missense |
c.3673C>A; p.L1225M; 9:93267764-93267764 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.813A>G; p.T271T; 9:93230888-93230888 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.3316G>C; p.E1106Q; 9:93262105-93262105 |
liver | carcinoma | Substitution - Missense |
c.2638G>A; p.V880M; 9:93259228-93259228 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1313_1317delTCTTC; p.F438fs*56; 9:93239789-93239793 |
breast | carcinoma | Deletion - Frameshift |
c.4346C>A; p.A1449D; 9:93289142-93289142 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.6021G>T; p.S2007S; 9:93299212-93299212 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6730C>A; p.R2244S; 9:93318019-93318019 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1337G>A; p.R446K; 9:93239813-93239813 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4972G>A; p.V1658I; 9:93292388-93292388 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.4972G>A; p.V1658I; 9:93292388-93292388 |
central_nervous_system; thalamus | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.5555C>T; p.T1852M; 9:93293065-93293065 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6179T>C; p.L2060P; 9:93306786-93306786 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1092C>T; p.D364D; 9:93234866-93234866 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.3480C>T; p.S1160S; 9:93263677-93263677 |
skin | malignant_melanoma | Substitution - coding silent |
c.2224_2225insC; p.H744fs*166; 9:93257023-93257024 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.5534G>A; p.R1845K; 9:93293044-93293044 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5088delG; p.G1698fs*53; 9:93292598-93292598 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5088delG; p.G1698fs*53; 9:93292598-93292598 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2629C>T; p.P877S; 9:93259219-93259219 |
skin | malignant_melanoma | Substitution - Missense |
c.1842G>A; p.S614S; 9:93252932-93252932 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2332C>T; p.P778S; 9:93257131-93257131 |
skin | malignant_melanoma | Substitution - Missense |
c.4359C>T; p.D1453D; 9:93289155-93289155 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5579C>T; p.S1860F; 9:93293089-93293089 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2213T>C; p.L738P; 9:93257012-93257012 |
thyroid | other; neoplasm | Substitution - Missense |
c.5484C>T; p.F1828F; 9:93292994-93292994 |
skin | malignant_melanoma | Substitution - coding silent |
c.720C>T; p.I240I; 9:93229776-93229776 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5755G>A; p.V1919M; 9:93297944-93297944 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4739G>T; p.R1580L; 9:93289535-93289535 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2213T>C; p.L738P; 9:93257012-93257012 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5070G>A; p.P1690P; 9:93292580-93292580 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2299delC; p.P767fs*58; 9:93257098-93257098 |
autonomic_ganglia | neuroblastoma | Deletion - Frameshift |
c.5999C>T; p.S2000F; 9:93299190-93299190 |
skin | malignant_melanoma | Substitution - Missense |
c.6472-2A>G; p.?; 9:93317518-93317518 |
skin | malignant_melanoma | Unknown |
c.5999C>T; p.S2000F; 9:93299190-93299190 |
skin | malignant_melanoma | Substitution - Missense |
c.4752_4753insG; p.D1587fs*9; 9:93289548-93289549 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.5778C>G; p.P1926P; 9:93297967-93297967 |
kidney | other; neoplasm | Substitution - coding silent |
c.4752_4753insG; p.D1587fs*9; 9:93289548-93289549 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1819G>T; p.G607C; 9:93252909-93252909 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4719C>T; p.P1573P; 9:93289515-93289515 |
skin | malignant_melanoma | Substitution - coding silent |
c.3270C>T; p.I1090I; 9:93262059-93262059 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4112delC; p.S1373fs*5; 9:93288908-93288908 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.3270C>T; p.I1090I; 9:93262059-93262059 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.5906C>T; p.P1969L; 9:93299097-93299097 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4112delC; p.S1373fs*5; 9:93288908-93288908 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.968C>A; p.S323Y; 9:93231043-93231043 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6212G>A; p.S2071N; 9:93306819-93306819 |
thyroid | carcinoma | Substitution - Missense |
c.4993T>C; p.F1665L; 9:93292503-93292503 |
prostate | carcinoma | Substitution - Missense |
c.2626G>A; p.A876T; 9:93259216-93259216 |
skin | malignant_melanoma | Substitution - Missense |
c.2910C>T; p.P970P; 9:93259500-93259500 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2269G>A; p.A757T; 9:93257068-93257068 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2021delC; p.A676fs*15; 9:93256327-93256327 |
autonomic_ganglia | neuroblastoma | Deletion - Frameshift |
c.6642delC; p.T2215fs*31; 9:93317925-93317925 |
ovary | carcinoma; mucinous_carcinoma | Deletion - Frameshift |
c.6642delC; p.T2215fs*31; 9:93317925-93317925 |
ovary | carcinoma; mucinous_carcinoma | Deletion - Frameshift |
c.5361C>G; p.G1787G; 9:93292871-93292871 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2372C>T; p.T791M; 9:93258962-93258962 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.5713G>A; p.E1905K; 9:93297902-93297902 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1380C>T; p.I460I; 9:93239856-93239856 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.4305C>T; p.L1435L; 9:93289101-93289101 |
skin | malignant_melanoma | Substitution - coding silent |
c.6007G>A; p.A2003T; 9:93299198-93299198 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.582G>A; p.T194T; 9:93185553-93185553 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6608G>A; p.R2203K; 9:93317897-93317897 |
skin | malignant_melanoma | Substitution - Missense |
c.2798A>T; p.Q933L; 9:93259388-93259388 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4510C>G; p.P1504A; 9:93289306-93289306 |
thyroid | carcinoma | Substitution - Missense |
c.2875A>G; p.T959A; 9:93259465-93259465 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2875A>G; p.T959A; 9:93259465-93259465 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.804G>A; p.T268T; 9:93229860-93229860 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6420G>C; p.L2140L; 9:93308533-93308533 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3648G>A; p.T1216T; 9:93264027-93264027 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.6365T>C; p.V2122A; 9:93308478-93308478 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1584G>A; p.R528R; 9:93247626-93247626 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1052C>T; p.A351V; 9:93234826-93234826 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4327A>T; p.T1443S; 9:93289123-93289123 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1052C>T; p.A351V; 9:93234826-93234826 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4431C>T; p.P1477P; 9:93289227-93289227 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2987C>T; p.P996L; 9:93259577-93259577 |
skin | malignant_melanoma | Substitution - Missense |
c.5434C>T; p.P1812S; 9:93292944-93292944 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2868G>A; p.P956P; 9:93259458-93259458 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6560C>T; p.P2187L; 9:93317608-93317608 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1349C>A; p.A450E; 9:93239825-93239825 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5119G>A; p.G1707S; 9:93292629-93292629 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3064G>A; p.A1022T; 9:93261853-93261853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4340A>C; p.E1447A; 9:93289136-93289136 |
breast | carcinoma | Substitution - Missense |
c.3064G>A; p.A1022T; 9:93261853-93261853 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5829G>A; p.K1943K; 9:93298018-93298018 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4661C>T; p.S1554F; 9:93289457-93289457 |
pancreas | carcinoma | Substitution - Missense |
c.600C>T; p.D200D; 9:93185571-93185571 |
thyroid | other; neoplasm | Substitution - coding silent |
c.4524C>T; p.T1508T; 9:93289320-93289320 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1920C>T; p.P640P; 9:93253010-93253010 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3261G>A; p.G1087G; 9:93262050-93262050 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.6724C>T; p.P2242S; 9:93318013-93318013 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1576C>T; p.Q526*; 9:93247618-93247618 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2307G>A; p.A769A; 9:93257106-93257106 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5459A>T; p.D1820V; 9:93292969-93292969 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2398C>T; p.P800S; 9:93258988-93258988 |
skin | malignant_melanoma | Substitution - Missense |
c.225C>T; p.A75A; 9:93185196-93185196 |
thyroid | other; neoplasm | Substitution - coding silent |
c.225C>T; p.A75A; 9:93185196-93185196 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1544C>A; p.A515D; 9:93247586-93247586 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.6541G>A; p.V2181I; 9:93317589-93317589 |
skin | malignant_melanoma | Substitution - Missense |
c.5067G>A; p.P1689P; 9:93292577-93292577 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1228C>A; p.P410T; 9:93238269-93238269 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.4436T>C; p.L1479S; 9:93289232-93289232 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3581C>T; p.T1194M; 9:93263960-93263960 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3581C>T; p.T1194M; 9:93263960-93263960 |
liver | carcinoma | Substitution - Missense |
c.3581C>T; p.T1194M; 9:93263960-93263960 |
liver | carcinoma | Substitution - Missense |
c.3319G>A; p.E1107K; 9:93262670-93262670 |
skin | malignant_melanoma | Substitution - Missense |
c.1564G>A; p.V522M; 9:93247606-93247606 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5181C>A; p.A1727A; 9:93292691-93292691 |
liver | carcinoma | Substitution - coding silent |
c.6459C>T; p.G2153G; 9:93308572-93308572 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4915C>A; p.L1639I; 9:93292331-93292331 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.664C>T; p.R222W; 9:93229720-93229720 |
ovary | other; neoplasm | Substitution - Missense |
c.1564G>A; p.V522M; 9:93247606-93247606 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6372C>T; p.A2124A; 9:93308485-93308485 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5271C>T; p.D1757D; 9:93292781-93292781 |
thyroid | other; neoplasm | Substitution - coding silent |
c.5271C>T; p.D1757D; 9:93292781-93292781 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5271C>T; p.D1757D; 9:93292781-93292781 |
breast | carcinoma | Substitution - coding silent |
c.3690A>C; p.E1230D; 9:93267781-93267781 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5143C>T; p.R1715W; 9:93292653-93292653 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.4628G>A; p.R1543Q; 9:93289424-93289424 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3686G>A; p.R1229Q; 9:93267777-93267777 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3871G>A; p.V1291I; 9:93268065-93268065 |
skin | malignant_melanoma | Substitution - Missense |
c.5998T>G; p.S2000A; 9:93299189-93299189 |
pancreas | carcinoma | Substitution - Missense |
c.6363G>C; p.T2121T; 9:93308476-93308476 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5229C>T; p.T1743T; 9:93292739-93292739 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1794G>A; p.S598S; 9:93252884-93252884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5305G>A; p.V1769M; 9:93292815-93292815 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5149C>T; p.R1717C; 9:93292659-93292659 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.3345C>T; p.P1115P; 9:93262696-93262696 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5065_5066CC>TT; p.P1689L; 9:93292575-93292576 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4644G>A; p.Q1548Q; 9:93289440-93289440 |
skin | malignant_melanoma | Substitution - coding silent |
c.3968C>T; p.S1323F; 9:93268723-93268723 |
skin | malignant_melanoma | Substitution - Missense |
c.5270A>G; p.D1757G; 9:93292780-93292780 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.2733T>C; p.P911P; 9:93259323-93259323 |
skin | malignant_melanoma | Substitution - coding silent |
c.3968C>T; p.S1323F; 9:93268723-93268723 |
skin | malignant_melanoma | Substitution - Missense |
c.4272G>A; p.E1424E; 9:93289068-93289068 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2077G>A; p.A693T; 9:93256383-93256383 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5758G>A; p.G1920S; 9:93297947-93297947 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.936T>C; p.C312C; 9:93231011-93231011 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2359G>A; p.V787M; 9:93258949-93258949 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5933G>T; p.S1978I; 9:93299124-93299124 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.5933G>T; p.S1978I; 9:93299124-93299124 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1133C>T; p.S378L; 9:93234907-93234907 |
skin | malignant_melanoma | Substitution - Missense |
c.2578C>T; p.R860W; 9:93259168-93259168 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2627C>T; p.A876V; 9:93259217-93259217 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5541C>T; p.G1847G; 9:93293051-93293051 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1712G>A; p.G571E; 9:93247754-93247754 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4860C>G; p.A1620A; 9:93290013-93290013 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.4417G>A; p.G1473R; 9:93289213-93289213 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.811A>G; p.T271A; 9:93229867-93229867 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.2529G>A; p.Q843Q; 9:93259119-93259119 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4728G>A; p.G1576G; 9:93289524-93289524 |
skin | malignant_melanoma | Substitution - coding silent |
c.4417G>A; p.G1473R; 9:93289213-93289213 |
prostate | carcinoma | Substitution - Missense |
c.3757G>A; p.A1253T; 9:93267848-93267848 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1993-8C>A; p.?; 9:93256291-93256291 |
liver | carcinoma | Unknown |
c.1361A>G; p.H454R; 9:93239837-93239837 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3951C>G; p.P1317P; 9:93268706-93268706 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3047C>T; p.P1016L; 9:93261836-93261836 |
skin | malignant_melanoma | Substitution - Missense |
c.1518C>T; p.F506F; 9:93247560-93247560 |
skin | malignant_melanoma | Substitution - coding silent |
c.100G>T; p.E34*; 9:93185071-93185071 |
central_nervous_system; thalamus | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.6121A>T; p.S2041C; 9:93300101-93300101 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.599A>G; p.D200G; 9:93185570-93185570 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4695C>T; p.G1565G; 9:93289491-93289491 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1828G>A; p.V610M; 9:93252918-93252918 |
prostate | carcinoma | Substitution - Missense |
c.3379T>G; p.S1127A; 9:93263576-93263576 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.6062G>A; p.R2021H; 9:93299253-93299253 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5260G>T; p.A1754S; 9:93292770-93292770 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.801G>A; p.G267G; 9:93229857-93229857 |
skin | malignant_melanoma | Substitution - coding silent |
c.6692G>T; p.G2231V; 9:93317981-93317981 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1522G>A; p.E508K; 9:93247564-93247564 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5651G>A; p.S1884N; 9:93293161-93293161 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6686G>A; p.R2229Q; 9:93317975-93317975 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2040C>T; p.S680S; 9:93256346-93256346 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.949A>T; p.I317F; 9:93231024-93231024 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2911A>G; p.M971V; 9:93259501-93259501 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1841C>T; p.S614L; 9:93252931-93252931 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1287G>A; p.E429E; 9:93239763-93239763 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6595G>A; p.G2199R; 9:93317884-93317884 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3325G>A; p.A1109T; 9:93262676-93262676 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5750C>G; p.P1917R; 9:93297939-93297939 |
stomach | carcinoma | Substitution - Missense |
c.2404G>A; p.A802T; 9:93258994-93258994 |
skin | malignant_melanoma | Substitution - Missense |
c.5750C>G; p.P1917R; 9:93297939-93297939 |
stomach | carcinoma | Substitution - Missense |
c.3654G>T; p.M1218I; 9:93264033-93264033 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3991+7G>A; p.?; 9:93268753-93268753 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Unknown |
c.5103C>T; p.S1701S; 9:93292613-93292613 |
kidney | other; neoplasm | Substitution - coding silent |
c.6539C>T; p.T2180M; 9:93317587-93317587 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6539C>T; p.T2180M; 9:93317587-93317587 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.697delA; p.G234fs*27; 9:93229753-93229753 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2224delC; p.H744fs*18; 9:93257023-93257023 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6519G>A; p.A2173A; 9:93317567-93317567 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1106_1107GG>AA; p.G369E; 9:93234880-93234881 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4253C>T; p.T1418M; 9:93289049-93289049 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2224delC; p.H744fs*18; 9:93257023-93257023 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2560C>G; p.P854A; 9:93259150-93259150 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5789G>A; p.R1930H; 9:93297978-93297978 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4116delC; p.S1373fs*5; 9:93288912-93288912 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4116delC; p.S1373fs*5; 9:93288912-93288912 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2467G>A; p.A823T; 9:93259057-93259057 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6493G>A; p.V2165M; 9:93317541-93317541 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3651T>C; p.Y1217Y; 9:93264030-93264030 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3703C>T; p.Q1235*; 9:93267794-93267794 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4122C>T; p.S1374S; 9:93288918-93288918 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3703C>T; p.Q1235*; 9:93267794-93267794 |
breast | carcinoma | Substitution - Nonsense |
c.5437G>A; p.V1813M; 9:93292947-93292947 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3995C>A; p.S1332*; 9:93288791-93288791 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1939G>A; p.V647I; 9:93253029-93253029 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6033C>T; p.S2011S; 9:93299224-93299224 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1163C>T; p.A388V; 9:93234937-93234937 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1061T>C; p.M354T; 9:93234835-93234835 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5269G>A; p.D1757N; 9:93292779-93292779 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6196G>A; p.G2066S; 9:93306803-93306803 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4771C>T; p.P1591S; 9:93289567-93289567 |
skin | malignant_melanoma | Substitution - Missense |
c.2821G>A; p.V941M; 9:93259411-93259411 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1604C>T; p.A535V; 9:93247646-93247646 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2301A>G; p.P767P; 9:93257100-93257100 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.426delG; p.A144fs*89; 9:93185397-93185397 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2025C>T; p.P675P; 9:93256331-93256331 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.3947C>T; p.S1316L; 9:93268702-93268702 |
skin | malignant_melanoma | Substitution - Missense |
c.2611C>A; p.P871T; 9:93259201-93259201 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3947C>T; p.S1316L; 9:93268702-93268702 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3947C>T; p.S1316L; 9:93268702-93268702 |
skin | malignant_melanoma | Substitution - Missense |
c.4729G>C; p.D1577H; 9:93289525-93289525 |
breast | carcinoma | Substitution - Missense |
c.3582G>A; p.T1194T; 9:93263961-93263961 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.782C>T; p.T261M; 9:93229838-93229838 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3582G>A; p.T1194T; 9:93263961-93263961 |
thyroid | other; neoplasm | Substitution - coding silent |
c.3582G>A; p.T1194T; 9:93263961-93263961 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2682C>A; p.G894G; 9:93259272-93259272 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.878A>C; p.K293T; 9:93230953-93230953 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1560C>T; p.D520D; 9:93247602-93247602 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1164G>A; p.A388A; 9:93234938-93234938 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4527C>T; p.V1509V; 9:93289323-93289323 |
skin | malignant_melanoma | Substitution - coding silent |
c.2647C>T; p.L883L; 9:93259237-93259237 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.489G>C; p.E163D; 9:93185460-93185460 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.489G>C; p.E163D; 9:93185460-93185460 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3145C>T; p.P1049S; 9:93261934-93261934 |
skin | malignant_melanoma | Substitution - Missense |
c.1561C>T; p.R521C; 9:93247603-93247603 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1561C>T; p.R521C; 9:93247603-93247603 |
pancreas | carcinoma | Substitution - Missense |
c.2440G>A; p.V814M; 9:93259030-93259030 |
thyroid | other; neoplasm | Substitution - Missense |
c.2440G>A; p.V814M; 9:93259030-93259030 |
breast | carcinoma | Substitution - Missense |
c.2440G>A; p.V814M; 9:93259030-93259030 |
thyroid | other; neoplasm | Substitution - Missense |
c.6225C>T; p.T2075T; 9:93308338-93308338 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1825A>G; p.T609A; 9:93252915-93252915 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4647G>A; p.E1549E; 9:93289443-93289443 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.812C>T; p.T271I; 9:93229868-93229868 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5883C>A; p.H1961Q; 9:93299074-93299074 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.824G>T; p.R275L; 9:93230899-93230899 |
skin | malignant_melanoma | Substitution - Missense |
c.1501-6T>A; p.?; 9:93247537-93247537 |
liver | carcinoma | Unknown |
c.3473G>A; p.R1158H; 9:93263670-93263670 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4578C>T; p.P1526P; 9:93289374-93289374 |
skin | malignant_melanoma | Substitution - coding silent |
c.2105C>A; p.P702H; 9:93256411-93256411 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.5069C>T; p.P1690L; 9:93292579-93292579 |
skin | malignant_melanoma | Substitution - Missense |
c.4575_4576CC>TT; p.P1526S; 9:93289371-93289372 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4478T>C; p.V1493A; 9:93289274-93289274 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2169G>A; p.P723P; 9:93256968-93256968 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3283C>T; p.P1095S; 9:93262072-93262072 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5776delC; p.T1928fs*12; 9:93297965-93297965 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1431G>A; p.K477K; 9:93239907-93239907 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - coding silent |
c.3662A>G; p.H1221R; 9:93267753-93267753 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3756C>T; p.D1252D; 9:93267847-93267847 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5357T>G; p.V1786G; 9:93292867-93292867 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5357T>G; p.V1786G; 9:93292867-93292867 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5357T>G; p.V1786G; 9:93292867-93292867 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5357T>G; p.V1786G; 9:93292867-93292867 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5357T>G; p.V1786G; 9:93292867-93292867 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5357T>G; p.V1786G; 9:93292867-93292867 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5357T>G; p.V1786G; 9:93292867-93292867 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5357T>G; p.V1786G; 9:93292867-93292867 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5357T>G; p.V1786G; 9:93292867-93292867 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5357T>G; p.V1786G; 9:93292867-93292867 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5357T>G; p.V1786G; 9:93292867-93292867 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5357T>G; p.V1786G; 9:93292867-93292867 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5357T>G; p.V1786G; 9:93292867-93292867 |
thyroid | other; neoplasm | Substitution - Missense |
c.5357T>G; p.V1786G; 9:93292867-93292867 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5357T>G; p.V1786G; 9:93292867-93292867 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1480G>A; p.D494N; 9:93239956-93239956 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6477C>T; p.T2159T; 9:93317525-93317525 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1053G>A; p.A351A; 9:93234827-93234827 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6005G>T; p.R2002L; 9:93299196-93299196 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6600C>T; p.T2200T; 9:93317889-93317889 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3700G>A; p.E1234K; 9:93267791-93267791 |
skin | malignant_melanoma | Substitution - Missense |
c.2699C>T; p.A900V; 9:93259289-93259289 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3700G>A; p.E1234K; 9:93267791-93267791 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1225G>A; p.D409N; 9:93238266-93238266 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4355G>T; p.R1452M; 9:93289151-93289151 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1056C>T; p.P352P; 9:93234830-93234830 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.6515C>T; p.P2172L; 9:93317563-93317563 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1236C>G; p.I412M; 9:93238277-93238277 |
breast | carcinoma | Substitution - Missense |
c.2523T>G; p.P841P; 9:93259113-93259113 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3773A>C; p.D1258A; 9:93267864-93267864 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.4099C>G; p.P1367A; 9:93288895-93288895 |
liver | carcinoma | Substitution - Missense |
c.4099C>G; p.P1367A; 9:93288895-93288895 |
liver | carcinoma | Substitution - Missense |
c.1874C>T; p.S625F; 9:93252964-93252964 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4287G>A; p.P1429P; 9:93289083-93289083 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4967_4968CC>AT; p.P1656H; 9:93292383-93292384 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5637G>T; p.K1879N; 9:93293147-93293147 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1319_1327delCAGAGGACA; p.E441_T443delEDT; 9:93239795-93239803 |
breast | carcinoma | Deletion - In frame |
c.3118C>T; p.L1040L; 9:93261907-93261907 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2023C>T; p.P675S; 9:93256329-93256329 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5862C>T; p.V1954V; 9:93298051-93298051 |
breast | carcinoma | Substitution - coding silent |
c.1540G>A; p.V514M; 9:93247582-93247582 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2403G>C; p.P801P; 9:93258993-93258993 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6604C>A; p.R2202R; 9:93317893-93317893 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5909C>T; p.P1970L; 9:93299100-93299100 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2956delG; p.V986fs*114; 9:93259546-93259546 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3096G>T; p.P1032P; 9:93261885-93261885 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6147T>G; p.S2049R; 9:93300127-93300127 |
thyroid | other; neoplasm | Substitution - Missense |
c.5613G>A; p.S1871S; 9:93293123-93293123 |
skin | malignant_melanoma | Substitution - coding silent |
c.1459G>T; p.D487Y; 9:93239935-93239935 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3113C>T; p.P1038L; 9:93261902-93261902 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4943T>A; p.V1648E; 9:93292359-93292359 |
liver | carcinoma | Substitution - Missense |
c.5505C>T; p.A1835A; 9:93293015-93293015 |
liver | carcinoma | Substitution - coding silent |
c.5090G>A; p.G1697E; 9:93292600-93292600 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6391C>T; p.L2131F; 9:93308504-93308504 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5505C>T; p.A1835A; 9:93293015-93293015 |
liver | carcinoma | Substitution - coding silent |
c.3046C>T; p.P1016S; 9:93261835-93261835 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.2551C>T; p.P851S; 9:93259141-93259141 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1486G>T; p.V496L; 9:93239962-93239962 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1486G>T; p.V496L; 9:93239962-93239962 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.549C>T; p.F183F; 9:93185520-93185520 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.502G>A; p.D168N; 9:93185473-93185473 |
skin | malignant_melanoma | Substitution - Missense |
c.1119G>A; p.L373L; 9:93234893-93234893 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2861_2896del36; p.T959_P970del12; 9:93259451-93259486 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.5430C>T; p.S1810S; 9:93292940-93292940 |
skin | malignant_melanoma | Substitution - coding silent |
c.6130C>T; p.R2044C; 9:93300110-93300110 |
skin | malignant_melanoma | Substitution - Missense |
c.5430C>T; p.S1810S; 9:93292940-93292940 |
skin | malignant_melanoma | Substitution - coding silent |
c.3647C>T; p.T1216M; 9:93264026-93264026 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3497G>T; p.R1166L; 9:93263694-93263694 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4572G>A; p.P1524P; 9:93289368-93289368 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4278C>T; p.H1426H; 9:93289074-93289074 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1469A>G; p.K490R; 9:93239945-93239945 |
liver | carcinoma | Substitution - Missense |
c.1469A>G; p.K490R; 9:93239945-93239945 |
liver | carcinoma | Substitution - Missense |
c.4753delG; p.D1587fs*35; 9:93289549-93289549 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6606G>A; p.R2202R; 9:93317895-93317895 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1469A>G; p.K490R; 9:93239945-93239945 |
liver | carcinoma | Substitution - Missense |
c.3808G>T; p.G1270C; 9:93267899-93267899 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4106C>G; p.P1369R; 9:93288902-93288902 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6375G>A; p.A2125A; 9:93308488-93308488 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4249G>A; p.E1417K; 9:93289045-93289045 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3080C>T; p.T1027I; 9:93261869-93261869 |
skin | malignant_melanoma | Substitution - Missense |
c.1381G>A; p.A461T; 9:93239857-93239857 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3328T>A; p.S1110T; 9:93262679-93262679 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3682G>A; p.E1228K; 9:93267773-93267773 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3114G>A; p.P1038P; 9:93261903-93261903 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1667C>T; p.P556L; 9:93247709-93247709 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2960G>A; p.R987H; 9:93259550-93259550 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4978C>T; p.Q1660*; 9:93292394-93292394 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2514A>C; p.P838P; 9:93259104-93259104 |
thyroid | other; neoplasm | Substitution - coding silent |
c.4338A>G; p.P1446P; 9:93289134-93289134 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3871+1G>A; p.?; 9:93268066-93268066 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.3184G>A; p.V1062M; 9:93261973-93261973 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2727C>T; p.D909D; 9:93259317-93259317 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.813-3C>A; p.?; 9:93230885-93230885 |
liver | carcinoma | Unknown |
c.3248C>T; p.P1083L; 9:93262037-93262037 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2986C>T; p.P996S; 9:93259576-93259576 |
skin | malignant_melanoma | Substitution - Missense |
c.1661C>T; p.P554L; 9:93247703-93247703 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.813-3C>A; p.?; 9:93230885-93230885 |
liver | carcinoma | Unknown |
c.510G>A; p.K170K; 9:93185481-93185481 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4924G>A; p.D1642N; 9:93292340-93292340 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2612C>A; p.P871H; 9:93259202-93259202 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.4973T>C; p.V1658A; 9:93292389-93292389 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4806C>T; p.V1602V; 9:93289602-93289602 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4856G>A; p.G1619E; 9:93290009-93290009 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.4856G>A; p.G1619E; 9:93290009-93290009 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.976A>T; p.I326F; 9:93231051-93231051 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.673T>C; p.F225L; 9:93229729-93229729 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3245C>G; p.P1082R; 9:93262034-93262034 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.783G>T; p.T261T; 9:93229839-93229839 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3890G>A; p.R1297K; 9:93268645-93268645 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2708C>T; p.P903L; 9:93259298-93259298 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4573delC; p.R1527fs*48; 9:93289369-93289369 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2635G>T; p.G879C; 9:93259225-93259225 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6355A>G; p.S2119G; 9:93308468-93308468 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.994G>A; p.A332T; 9:93231069-93231069 |
skin | malignant_melanoma | Substitution - Missense |
c.5199C>A; p.F1733L; 9:93292709-93292709 |
thyroid | other; neoplasm | Substitution - Missense |
c.5263C>T; p.P1755S; 9:93292773-93292773 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |