General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 2316 |
Name | FLNA |
Synonymous | filamin A, alpha;FLNA;filamin A, alpha |
Definition | actin binding protein 280|alpha-filamin|endothelial actin-binding protein|filamin-1|filamin-A|non-muscle filamin |
Position | Xq28 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.06. |
The copy number variations for various cancers | Top |
There is no record for FLNA |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
---|---|---|---|
c.3679G>A; p.G1227R; 23:154360116-154360116 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3679G>A; p.G1227R; 23:154360116-154360116 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3679G>A; p.G1227R; 23:154360116-154360116 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.7741G>C; p.D2581H; 23:154349377-154349377 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1314C>T; p.G438G; 23:154366139-154366139 |
breast | carcinoma | Substitution - coding silent |
c.4866C>T; p.Y1622Y; 23:154357513-154357513 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5054C>T; p.T1685M; 23:154354988-154354988 |
skin | malignant_melanoma | Substitution - Missense |
c.902G>A; p.R301Q; 23:154366817-154366817 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1290A>G; p.V430V; 23:154366163-154366163 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.6019G>A; p.V2007M; 23:154353299-154353299 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2574C>A; p.P858P; 23:154362324-154362324 |
thyroid | other; neoplasm | Substitution - coding silent |
c.664G>A; p.V222I; 23:154367697-154367697 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7920C>T; p.S2640S; 23:154348873-154348873 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3377A>G; p.Y1126C; 23:154360418-154360418 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.664G>A; p.V222I; 23:154367697-154367697 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1310G>A; p.R437Q; 23:154366143-154366143 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1904A>G; p.Y635C; 23:154364644-154364644 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2482C>T; p.R828C; 23:154362501-154362501 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6862delC; p.R2288fs*58; 23:154351929-154351929 |
breast | carcinoma | Deletion - Frameshift |
c.7379G>A; p.G2460D; 23:154349822-154349822 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2836G>T; p.G946C; 23:154361778-154361778 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6716A>G; p.H2239R; 23:154352234-154352234 |
skin | malignant_melanoma | Substitution - Missense |
c.6466G>A; p.V2156I; 23:154352589-154352589 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4655G>T; p.G1552V; 23:154358299-154358299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2064C>T; p.A688A; 23:154364331-154364331 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.4142G>T; p.R1381M; 23:154359484-154359484 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4344G>A; p.A1448A; 23:154359114-154359114 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5160C>T; p.Y1720Y; 23:154354882-154354882 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4363G>A; p.G1455R; 23:154359095-154359095 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.6424G>T; p.E2142*; 23:154352631-154352631 |
pancreas | carcinoma | Substitution - Nonsense |
c.4909G>A; p.V1637M; 23:154357470-154357470 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5599C>T; p.H1867Y; 23:154354002-154354002 |
skin | malignant_melanoma | Substitution - Missense |
c.3877G>A; p.V1293I; 23:154359834-154359834 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6299G>T; p.G2100V; 23:154352852-154352852 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.6299G>T; p.G2100V; 23:154352852-154352852 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4506C>T; p.N1502N; 23:154358537-154358537 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.831C>T; p.P277P; 23:154367434-154367434 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1764C>T; p.G588G; 23:154364885-154364885 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2451C>T; p.P817P; 23:154362532-154362532 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1764C>T; p.G588G; 23:154364885-154364885 |
liver | carcinoma | Substitution - coding silent |
c.2451C>T; p.P817P; 23:154362532-154362532 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3393C>T; p.P1131P; 23:154360402-154360402 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2327G>T; p.G776V; 23:154362738-154362738 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6710delG; p.G2237fs*109; 23:154352240-154352240 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.7055C>A; p.S2352Y; 23:154351010-154351010 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.246G>T; p.E82D; 23:154371000-154371000 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.485_487delAGG; p.E162delE; 23:154367977-154367979 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - In frame |
c.485_487delAGG; p.E162delE; 23:154367977-154367979 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - In frame |
c.485_487delAGG; p.E162delE; 23:154367977-154367979 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - In frame |
c.485_487delAGG; p.E162delE; 23:154367977-154367979 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - In frame |
c.485_487delAGG; p.E162delE; 23:154367977-154367979 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - In frame |
c.485_487delAGG; p.E162delE; 23:154367977-154367979 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - In frame |
c.4699G>A; p.E1567K; 23:154358255-154358255 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.7574A>C; p.H2525P; 23:154349544-154349544 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3076delG; p.A1026fs*20; 23:154361439-154361439 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6219C>T; p.R2073R; 23:154353008-154353008 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3940G>A; p.D1314N; 23:154359771-154359771 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6219C>T; p.R2073R; 23:154353008-154353008 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.6752C>T; p.A2251V; 23:154352198-154352198 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6007C>T; p.R2003C; 23:154353311-154353311 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4868G>T; p.G1623V; 23:154357511-154357511 |
breast | carcinoma | Substitution - Missense |
c.4495G>A; p.V1499M; 23:154358548-154358548 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6602G>A; p.R2201H; 23:154352348-154352348 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6297C>T; p.D2099D; 23:154352854-154352854 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.4369G>A; p.G1457S; 23:154359089-154359089 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1996G>A; p.A666T; 23:154364552-154364552 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3420C>T; p.F1140F; 23:154360375-154360375 |
skin | malignant_melanoma | Substitution - coding silent |
c.1582G>A; p.V528M; 23:154365245-154365245 |
breast | carcinoma | Substitution - Missense |
c.1996G>A; p.A666T; 23:154364552-154364552 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1052C>A; p.T351K; 23:154366575-154366575 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1996G>A; p.A666T; 23:154364552-154364552 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1897G>A; p.V633M; 23:154364651-154364651 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5683G>T; p.E1895*; 23:154353918-154353918 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.5967G>A; p.P1989P; 23:154353351-154353351 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1423G>T; p.G475C; 23:154366030-154366030 |
ovary | other; neoplasm | Substitution - Missense |
c.3795T>C; p.I1265I; 23:154360000-154360000 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3369C>T; p.S1123S; 23:154360426-154360426 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5967G>A; p.P1989P; 23:154353351-154353351 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.620C>T; p.P207L; 23:154367844-154367844 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6298G>A; p.G2100R; 23:154352853-154352853 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5062G>C; p.V1688L; 23:154354980-154354980 |
ovary | other; neoplasm | Substitution - Missense |
c.1165C>A; p.P389T; 23:154366371-154366371 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1008C>T; p.N336N; 23:154366619-154366619 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.70C>A; p.R24R; 23:154371176-154371176 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2472C>T; p.F824F; 23:154362511-154362511 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5146delC; p.Q1716fs*23; 23:154354896-154354896 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.7510C>T; p.P2504S; 23:154349691-154349691 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.5146delC; p.Q1716fs*23; 23:154354896-154354896 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2516C>T; p.T839M; 23:154362467-154362467 |
thyroid | carcinoma | Substitution - Missense |
c.2516C>T; p.T839M; 23:154362467-154362467 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1359C>T; p.V453V; 23:154366094-154366094 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2839G>A; p.V947I; 23:154361775-154361775 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3648G>A; p.T1216T; 23:154360147-154360147 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4483G>A; p.E1495K; 23:154358560-154358560 |
skin | malignant_melanoma | Substitution - Missense |
c.6570C>T; p.I2190I; 23:154352380-154352380 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2033G>A; p.R678H; 23:154364362-154364362 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2033G>A; p.R678H; 23:154364362-154364362 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5289C>T; p.Y1763Y; 23:154354640-154354640 |
pancreas | carcinoma | Substitution - coding silent |
c.3990C>G; p.S1330S; 23:154359636-154359636 |
liver | carcinoma | Substitution - coding silent |
c.3990C>G; p.S1330S; 23:154359636-154359636 |
liver | carcinoma | Substitution - coding silent |
c.3882G>T; p.K1294N; 23:154359829-154359829 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1765G>A; p.G589S; 23:154364884-154364884 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1765G>A; p.G589S; 23:154364884-154364884 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1526G>T; p.G509V; 23:154365390-154365390 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.956A>G; p.Y319C; 23:154366763-154366763 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4288G>A; p.G1430S; 23:154359261-154359261 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3256G>A; p.A1086T; 23:154360539-154360539 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2058T>G; p.G686G; 23:154364337-154364337 |
breast | carcinoma | Substitution - coding silent |
c.850G>A; p.A284T; 23:154367415-154367415 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.846G>A; p.K282K; 23:154367419-154367419 |
breast | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.5097C>A; p.D1699E; 23:154354945-154354945 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6583A>G; p.N2195D; 23:154352367-154352367 |
skin | malignant_melanoma | Substitution - Missense |
c.1528G>A; p.A510T; 23:154365388-154365388 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7943G>T; p.*2648L; 23:154348850-154348850 |
skin | malignant_melanoma | Nonstop extension |
c.803A>G; p.K268R; 23:154367462-154367462 |
liver | carcinoma | Substitution - Missense |
c.803A>G; p.K268R; 23:154367462-154367462 |
liver | carcinoma | Substitution - Missense |
c.2638C>A; p.P880T; 23:154362260-154362260 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3572C>T; p.A1191V; 23:154360223-154360223 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3086G>A; p.S1029N; 23:154361429-154361429 |
liver | carcinoma | Substitution - Missense |
c.4781C>A; p.T1594K; 23:154357598-154357598 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3199C>T; p.P1067S; 23:154361316-154361316 |
skin | malignant_melanoma | Substitution - Missense |
c.3086G>A; p.S1029N; 23:154361429-154361429 |
liver | carcinoma | Substitution - Missense |
c.7632C>T; p.A2544A; 23:154349486-154349486 |
skin | malignant_melanoma | Substitution - coding silent |
c.5273C>A; p.A1758D; 23:154354656-154354656 |
thyroid | other; neoplasm | Substitution - Missense |
c.7062A>G; p.A2354A; 23:154351003-154351003 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1813G>A; p.D605N; 23:154364836-154364836 |
breast | carcinoma | Substitution - Missense |
c.2023-2A>C; p.?; 23:154364374-154364374 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.3368C>T; p.S1123F; 23:154360427-154360427 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5874G>A; p.M1958I; 23:154353444-154353444 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5874G>A; p.M1958I; 23:154353444-154353444 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4758T>C; p.D1586D; 23:154357621-154357621 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2623G>A; p.V875M; 23:154362275-154362275 |
skin | malignant_melanoma | Substitution - Missense |
c.7928G>A; p.R2643H; 23:154348865-154348865 |
pancreas | carcinoma | Substitution - Missense |
c.720+9G>T; p.?; 23:154367632-154367632 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Unknown |
c.6897C>G; p.V2299V; 23:154351894-154351894 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1996G>T; p.A666S; 23:154364552-154364552 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5881T>C; p.S1961P; 23:154353437-154353437 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7901delA; p.D2634fs*>14; 23:154348892-154348892 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.7742A>G; p.D2581G; 23:154349376-154349376 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7742A>G; p.D2581G; 23:154349376-154349376 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7636delC; p.Q2546fs*22; 23:154349482-154349482 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4803C>T; p.D1601D; 23:154357576-154357576 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1278G>A; p.Q426Q; 23:154366175-154366175 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1065G>A; p.K355K; 23:154366562-154366562 |
skin | malignant_melanoma | Substitution - coding silent |
c.1278G>A; p.Q426Q; 23:154366175-154366175 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.136C>T; p.Q46*; 23:154371110-154371110 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5833G>T; p.G1945C; 23:154353581-154353581 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4510G>A; p.D1504N; 23:154358533-154358533 |
breast | carcinoma | Substitution - Missense |
c.826C>T; p.R276W; 23:154367439-154367439 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.5913C>G; p.I1971M; 23:154353405-154353405 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5076T>C; p.D1692D; 23:154354966-154354966 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2632G>A; p.E878K; 23:154362266-154362266 |
breast | carcinoma | Substitution - Missense |
c.6408C>T; p.G2136G; 23:154352647-154352647 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2504C>T; p.T835M; 23:154362479-154362479 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.553A>G; p.I185V; 23:154367911-154367911 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6445C>T; p.R2149W; 23:154352610-154352610 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.3597G>A; p.S1199S; 23:154360198-154360198 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.5491C>T; p.R1831W; 23:154354217-154354217 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5069C>T; p.T1690M; 23:154354973-154354973 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6229T>A; p.Y2077N; 23:154352922-154352922 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2325C>T; p.Y775Y; 23:154362740-154362740 |
breast | carcinoma | Substitution - coding silent |
c.7515C>T; p.Y2505Y; 23:154349686-154349686 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.553A>G; p.I185V; 23:154367911-154367911 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7668C>T; p.D2556D; 23:154349450-154349450 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - coding silent |
c.1508T>A; p.F503Y; 23:154365408-154365408 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.506A>C; p.K169T; 23:154367958-154367958 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2510A>G; p.K837R; 23:154362473-154362473 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.206C>T; p.T69M; 23:154371040-154371040 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1114G>T; p.V372L; 23:154366422-154366422 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.5387C>T; p.P1796L; 23:154354410-154354410 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5696C>T; p.S1899F; 23:154353718-154353718 |
skin | malignant_melanoma | Substitution - Missense |
c.6213T>C; p.D2071D; 23:154353014-154353014 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6317A>C; p.Y2106S; 23:154352834-154352834 |
breast | carcinoma | Substitution - Missense |
c.739A>G; p.I247V; 23:154367526-154367526 |
skin | malignant_melanoma | Substitution - Missense |
c.2814G>A; p.T938T; 23:154361991-154361991 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4247C>T; p.P1416L; 23:154359302-154359302 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4661G>A; p.G1554E; 23:154358293-154358293 |
skin; ankle | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.4883C>T; p.P1628L; 23:154357496-154357496 |
skin | malignant_melanoma | Substitution - Missense |
c.2615C>T; p.A872V; 23:154362283-154362283 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.5478C>A; p.G1826G; 23:154354230-154354230 |
liver | carcinoma | Substitution - coding silent |
c.5478C>A; p.G1826G; 23:154354230-154354230 |
liver | carcinoma | Substitution - coding silent |
c.299G>A; p.R100H; 23:154370947-154370947 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4290C>T; p.G1430G; 23:154359259-154359259 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2437G>A; p.G813R; 23:154362546-154362546 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7053C>T; p.A2351A; 23:154351012-154351012 |
oesophagus | carcinoma | Substitution - coding silent |
c.5917A>T; p.I1973F; 23:154353401-154353401 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.843G>T; p.P281P; 23:154367422-154367422 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2037G>T; p.G679G; 23:154364358-154364358 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.4196A>G; p.K1399R; 23:154359353-154359353 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2037G>T; p.G679G; 23:154364358-154364358 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3514C>A; p.R1172R; 23:154360281-154360281 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3514C>A; p.R1172R; 23:154360281-154360281 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.144T>G; p.T48T; 23:154371102-154371102 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5995C>T; p.L1999L; 23:154353323-154353323 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1096G>A; p.A366T; 23:154366440-154366440 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1242C>T; p.G414G; 23:154366211-154366211 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1923C>T; p.G641G; 23:154364625-154364625 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3904G>T; p.G1302C; 23:154359807-154359807 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.7910T>A; p.I2637N; 23:154348883-154348883 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1637T>C; p.V546A; 23:154365190-154365190 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.7485C>T; p.Y2495Y; 23:154349716-154349716 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7779G>T; p.G2593G; 23:154349014-154349014 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3353G>T; p.G1118V; 23:154360442-154360442 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5460C>T; p.I1820I; 23:154354248-154354248 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1997C>T; p.A666V; 23:154364551-154364551 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4648G>A; p.A1550T; 23:154358306-154358306 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6175G>A; p.E2059K; 23:154353052-154353052 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4366C>A; p.P1456T; 23:154359092-154359092 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.313G>C; p.E105Q; 23:154370933-154370933 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7122C>G; p.A2374A; 23:154350943-154350943 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3567C>A; p.G1189G; 23:154360228-154360228 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.781C>A; p.L261M; 23:154367484-154367484 |
pancreas | carcinoma | Substitution - Missense |
c.4224C>T; p.G1408G; 23:154359325-154359325 |
breast | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.4224C>T; p.G1408G; 23:154359325-154359325 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1920T>G; p.A640A; 23:154364628-154364628 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6107C>T; p.P2036L; 23:154353120-154353120 |
skin | malignant_melanoma | Substitution - Missense |
c.7166C>T; p.A2389V; 23:154350198-154350198 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2257A>G; p.S753G; 23:154364045-154364045 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4377C>G; p.S1459R; 23:154359081-154359081 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5132T>C; p.F1711S; 23:154354910-154354910 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1109T>A; p.F370Y; 23:154366427-154366427 |
breast | carcinoma | Substitution - Missense |
c.5132T>C; p.F1711S; 23:154354910-154354910 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.7371G>A; p.A2457A; 23:154349830-154349830 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.429C>A; p.T143T; 23:154368035-154368035 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.151C>T; p.R51C; 23:154371095-154371095 |
ovary | other; neoplasm | Substitution - Missense |
c.7454T>C; p.V2485A; 23:154349747-154349747 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6486C>A; p.L2162L; 23:154352569-154352569 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1179C>T; p.P393P; 23:154366357-154366357 |
skin | malignant_melanoma | Substitution - coding silent |
c.1042C>T; p.P348S; 23:154366585-154366585 |
skin | malignant_melanoma | Substitution - Missense |
c.162C>G; p.N54K; 23:154371084-154371084 |
ovary | other; neoplasm | Substitution - Missense |
c.3699C>G; p.I1233M; 23:154360096-154360096 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.43G>A; p.A15T; 23:154371203-154371203 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4711G>C; p.D1571H; 23:154358243-154358243 |
breast | carcinoma | Substitution - Missense |
c.7900G>A; p.D2634N; 23:154348893-154348893 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4757A>G; p.D1586G; 23:154357622-154357622 |
breast | carcinoma | Substitution - Missense |
c.7112C>T; p.P2371L; 23:154350953-154350953 |
skin | malignant_melanoma | Substitution - Missense |
c.1695C>A; p.P565P; 23:154364954-154364954 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5364G>C; p.L1788L; 23:154354433-154354433 |
breast | carcinoma | Substitution - coding silent |
c.3932A>G; p.D1311G; 23:154359779-154359779 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3932A>G; p.D1311G; 23:154359779-154359779 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1038C>T; p.Y346Y; 23:154366589-154366589 |
skin | malignant_melanoma | Substitution - coding silent |
c.3154delG; p.V1052fs*19; 23:154361361-154361361 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4773G>A; p.P1591P; 23:154357606-154357606 |
breast | carcinoma | Substitution - coding silent |
c.4465G>A; p.G1489R; 23:154358993-154358993 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1698C>T; p.F566F; 23:154364951-154364951 |
skin | malignant_melanoma | Substitution - coding silent |
c.7360A>T; p.T2454S; 23:154349841-154349841 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4833C>T; p.D1611D; 23:154357546-154357546 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4221C>T; p.D1407D; 23:154359328-154359328 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.5074G>C; p.D1692H; 23:154354968-154354968 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2392G>A; p.E798K; 23:154362673-154362673 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4020G>A; p.V1340V; 23:154359606-154359606 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5033C>T; p.A1678V; 23:154355009-154355009 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2389G>T; p.A797S; 23:154362676-154362676 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1998G>A; p.A666A; 23:154364550-154364550 |
breast | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.2813C>T; p.T938M; 23:154361992-154361992 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1699G>A; p.E567K; 23:154364950-154364950 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.216C>T; p.S72S; 23:154371030-154371030 |
breast | carcinoma | Substitution - coding silent |
c.216C>T; p.S72S; 23:154371030-154371030 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1487G>A; p.R496Q; 23:154365429-154365429 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6455C>T; p.S2152L; 23:154352600-154352600 |
breast | carcinoma | Substitution - Missense |
c.504delC; p.K169fs*73; 23:154367960-154367960 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1911G>T; p.P637P; 23:154364637-154364637 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3259C>T; p.R1087C; 23:154360536-154360536 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4142+10C>T; p.?; 23:154359474-154359474 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.271C>G; p.R91G; 23:154370975-154370975 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6008G>A; p.R2003H; 23:154353310-154353310 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2202C>A; p.S734S; 23:154364100-154364100 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2695G>T; p.A899S; 23:154362110-154362110 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.6551A>G; p.K2184R; 23:154352399-154352399 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7194C>T; p.G2398G; 23:154350170-154350170 |
pancreas | carcinoma | Substitution - coding silent |
c.245A>G; p.E82G; 23:154371001-154371001 |
thyroid | other; neoplasm | Substitution - Missense |
c.4903C>T; p.R1635C; 23:154357476-154357476 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7894T>A; p.W2632R; 23:154348899-154348899 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2955T>A; p.V985V; 23:154361560-154361560 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1807G>T; p.G603W; 23:154364842-154364842 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6047C>T; p.T2016M; 23:154353180-154353180 |
oesophagus | carcinoma | Substitution - Missense |
c.4896C>T; p.Y1632Y; 23:154357483-154357483 |
thyroid | carcinoma | Substitution - coding silent |
c.1807G>T; p.G603W; 23:154364842-154364842 |
breast | carcinoma; ductolobular_carcinoma | Substitution - Missense |
c.1228+3G>T; p.?; 23:154366305-154366305 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Unknown |
c.5344G>C; p.G1782R; 23:154354453-154354453 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7450C>T; p.R2484C; 23:154349751-154349751 |
bone; tibia | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.6624C>T; p.G2208G; 23:154352326-154352326 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3337G>A; p.E1113K; 23:154360458-154360458 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7405C>T; p.P2469S; 23:154349796-154349796 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3822C>G; p.A1274A; 23:154359889-154359889 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1609G>A; p.V537M; 23:154365218-154365218 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2520C>T; p.P840P; 23:154362463-154362463 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2104G>A; p.G702S; 23:154364291-154364291 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.2132T>C; p.V711A; 23:154364263-154364263 |
breast | carcinoma | Substitution - Missense |
c.1480G>C; p.G494R; 23:154365436-154365436 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3568A>G; p.S1190G; 23:154360227-154360227 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5055G>A; p.T1685T; 23:154354987-154354987 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6601C>T; p.R2201C; 23:154352349-154352349 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3161G>C; p.G1054A; 23:154361354-154361354 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2860G>T; p.D954Y; 23:154361754-154361754 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1545G>T; p.L515L; 23:154365371-154365371 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4811A>T; p.Y1604F; 23:154357568-154357568 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.810G>A; p.K270K; 23:154367455-154367455 |
skin | malignant_melanoma | Substitution - coding silent |
c.5634A>T; p.G1878G; 23:154353967-154353967 |
breast | carcinoma | Substitution - coding silent |
c.7088C>T; p.A2363V; 23:154350977-154350977 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4524C>A; p.T1508T; 23:154358519-154358519 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4010G>T; p.G1337V; 23:154359616-154359616 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7669G>A; p.A2557T; 23:154349449-154349449 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7825G>A; p.V2609M; 23:154348968-154348968 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4891C>T; p.P1631S; 23:154357488-154357488 |
skin | malignant_melanoma | Substitution - Missense |
c.1466G>A; p.G489D; 23:154365450-154365450 |
liver | carcinoma | Substitution - Missense |
c.1466G>A; p.G489D; 23:154365450-154365450 |
liver | carcinoma | Substitution - Missense |
c.2762G>A; p.R921Q; 23:154362043-154362043 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1932C>T; p.A644A; 23:154364616-154364616 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1599G>T; p.L533L; 23:154365228-154365228 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5229G>T; p.G1743G; 23:154354700-154354700 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5876G>A; p.R1959H; 23:154353442-154353442 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.5876G>A; p.R1959H; 23:154353442-154353442 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5164A>G; p.I1722V; 23:154354878-154354878 |
breast | carcinoma | Substitution - Missense |
c.5817T>C; p.N1939N; 23:154353597-154353597 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.7218C>T; p.F2406F; 23:154350146-154350146 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4330G>A; p.D1444N; 23:154359128-154359128 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1223C>T; p.T408M; 23:154366313-154366313 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4808C>T; p.T1603M; 23:154357571-154357571 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.759C>T; p.D253D; 23:154367506-154367506 |
pancreas | carcinoma | Substitution - coding silent |
c.999C>T; p.T333T; 23:154366628-154366628 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3285C>T; p.A1095A; 23:154360510-154360510 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4259G>C; p.G1420A; 23:154359290-154359290 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6653G>A; p.G2218D; 23:154352297-154352297 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1026C>T; p.F342F; 23:154366601-154366601 |
skin | malignant_melanoma | Substitution - coding silent |
c.4710C>A; p.I1570I; 23:154358244-154358244 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3972C>T; p.Y1324Y; 23:154359739-154359739 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7610C>T; p.S2537F; 23:154349508-154349508 |
skin | malignant_melanoma | Substitution - Missense |
c.4710C>T; p.I1570I; 23:154358244-154358244 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4452G>T; p.Q1484H; 23:154359006-154359006 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2488G>T; p.D830Y; 23:154362495-154362495 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1581C>T; p.R527R; 23:154365246-154365246 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5241G>A; p.S1747S; 23:154354688-154354688 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1167C>T; p.P389P; 23:154366369-154366369 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1581C>T; p.R527R; 23:154365246-154365246 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.792C>T; p.F264F; 23:154367473-154367473 |
skin | malignant_melanoma | Substitution - coding silent |
c.5347C>T; p.L1783L; 23:154354450-154354450 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.732C>G; p.P244P; 23:154367533-154367533 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.6963C>T; p.F2321F; 23:154351641-154351641 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.7134C>A; p.C2378*; 23:154350931-154350931 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1399C>T; p.R467C; 23:154366054-154366054 |
skin | malignant_melanoma | Substitution - Missense |
c.7017C>T; p.S2339S; 23:154351587-154351587 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1716C>T; p.T572T; 23:154364933-154364933 |
thyroid | carcinoma | Substitution - coding silent |
c.3478G>A; p.A1160T; 23:154360317-154360317 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7806_7807GG>TT; p.E2602_E2603>D*; 23:154348986-154348987 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Complex - compound substitution |
c.3990C>T; p.S1330S; 23:154359636-154359636 |
NS | malignant_melanoma | Substitution - coding silent |
c.1487G>C; p.R496P; 23:154365429-154365429 |
ovary | other; neoplasm | Substitution - Missense |
c.3990C>T; p.S1330S; 23:154359636-154359636 |
NS | malignant_melanoma | Substitution - coding silent |
c.3544C>T; p.Q1182*; 23:154360251-154360251 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.411C>T; p.I137I; 23:154368053-154368053 |
skin | malignant_melanoma | Substitution - coding silent |
c.6018C>T; p.H2006H; 23:154353300-154353300 |
liver | carcinoma | Substitution - coding silent |
c.6018C>T; p.H2006H; 23:154353300-154353300 |
liver | carcinoma | Substitution - coding silent |
c.4164G>C; p.L1388L; 23:154359385-154359385 |
breast | carcinoma | Substitution - coding silent |
c.2399G>C; p.G800A; 23:154362666-154362666 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.587G>A; p.R196Q; 23:154367877-154367877 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1191C>T; p.I397I; 23:154366345-154366345 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2848A>C; p.T950P; 23:154361766-154361766 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1995C>T; p.D665D; 23:154364553-154364553 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2630C>T; p.A877V; 23:154362268-154362268 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7350C>A; p.F2450L; 23:154349851-154349851 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1327C>T; p.R443C; 23:154366126-154366126 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4050C>T; p.T1350T; 23:154359576-154359576 |
breast | carcinoma | Substitution - coding silent |
c.2543T>G; p.I848S; 23:154362440-154362440 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2404+7C>T; p.?; 23:154362654-154362654 |
pancreas | carcinoma | Unknown |
c.3636C>T; p.H1212H; 23:154360159-154360159 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3001C>G; p.Q1001E; 23:154361514-154361514 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2103C>T; p.H701H; 23:154364292-154364292 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.5070G>T; p.T1690T; 23:154354972-154354972 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2358C>T; p.A786A; 23:154362707-154362707 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2825A>G; p.Q942R; 23:154361980-154361980 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.402G>A; p.L134L; 23:154368062-154368062 |
breast | carcinoma | Substitution - coding silent |
c.561C>A; p.N187K; 23:154367903-154367903 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.985G>A; p.E329K; 23:154366734-154366734 |
breast | carcinoma | Substitution - Missense |
c.3718G>A; p.V1240M; 23:154360077-154360077 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3718G>A; p.V1240M; 23:154360077-154360077 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.439C>T; p.H147Y; 23:154368025-154368025 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.6228C>A; p.G2076G; 23:154352923-154352923 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2252G>A; p.G751D; 23:154364050-154364050 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5198A>G; p.N1733S; 23:154354844-154354844 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4060G>A; p.D1354N; 23:154359566-154359566 |
oesophagus | carcinoma | Substitution - Missense |
c.893T>G; p.V298G; 23:154366826-154366826 |
breast | carcinoma | Substitution - Missense |
c.3637G>A; p.G1213S; 23:154360158-154360158 |
skin | malignant_melanoma | Substitution - Missense |
c.33C>T; p.S11S; 23:154371213-154371213 |
thyroid | carcinoma | Substitution - coding silent |
c.1872C>T; p.D624D; 23:154364676-154364676 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1771G>A; p.V591I; 23:154364878-154364878 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1771G>A; p.V591I; 23:154364878-154364878 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4899C>T; p.R1633R; 23:154357480-154357480 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5437G>T; p.G1813C; 23:154354271-154354271 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3253C>T; p.P1085S; 23:154360542-154360542 |
skin | malignant_melanoma | Substitution - Missense |