| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 57646 |
Name | USP28 |
Synonymous | ubiquitin specific peptidase 28;USP28;ubiquitin specific peptidase 28 |
Definition | deubiquitinating enzyme 28|ubiquitin carboxyl-terminal hydrolase 28|ubiquitin carboxyl-terminal hydrolase 28 variant 1|ubiquitin specific protease 28|ubiquitin thioesterase 28|ubiquitin thiolesterase 28|ubiquitin-specific-processing protease 28 |
Position | 11q23 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.247G>A; p.A83T; 11:113852522-113852522 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.136-1G>T; p.?; 11:113852634-113852634 |
lung | carcinoma; adenocarcinoma | Unknown |
c.2554G>T; p.D852Y; 11:113804893-113804893 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2281G>A; p.G761S; 11:113808321-113808321 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2281G>A; p.G761S; 11:113808321-113808321 |
prostate | carcinoma | Substitution - Missense |
c.1342G>T; p.V448F; 11:113817779-113817779 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2659-1G>A; p.?; 11:113803878-113803878 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.2804G>T; p.G935V; 11:113803216-113803216 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.490C>T; p.L164L; 11:113840642-113840642 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.490C>T; p.L164L; 11:113840642-113840642 |
pancreas | carcinoma | Substitution - coding silent |
c.497delA; p.N166fs*59; 11:113840635-113840635 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2987C>T; p.S996F; 11:113801554-113801554 |
skin | malignant_melanoma | Substitution - Missense |
c.362G>T; p.R121I; 11:113841675-113841675 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.698T>G; p.V233G; 11:113833481-113833481 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3136C>T; p.P1046S; 11:113799338-113799338 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.157C>T; p.Q53*; 11:113852612-113852612 |
breast | carcinoma | Substitution - Nonsense |
c.1168C>T; p.Q390*; 11:113827252-113827252 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2814G>A; p.R938R; 11:113803206-113803206 |
skin | malignant_melanoma | Substitution - coding silent |
c.905G>A; p.R302H; 11:113830872-113830872 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1052G>T; p.G351V; 11:113829204-113829204 |
prostate | carcinoma | Substitution - Missense |
c.2118G>A; p.M706I; 11:113809109-113809109 |
skin | malignant_melanoma | Substitution - Missense |
c.2714G>A; p.G905D; 11:113803822-113803822 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2291C>T; p.A764V; 11:113808311-113808311 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3154A>G; p.N1052D; 11:113799320-113799320 |
liver | carcinoma | Substitution - Missense |
c.763G>A; p.D255N; 11:113831990-113831990 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3082G>T; p.E1028*; 11:113799392-113799392 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.1157T>C; p.L386P; 11:113827263-113827263 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.516G>A; p.W172*; 11:113840616-113840616 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1725C>T; p.C575C; 11:113813903-113813903 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1725C>T; p.C575C; 11:113813903-113813903 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.704C>T; p.P235L; 11:113833475-113833475 |
breast | carcinoma | Substitution - Missense |
c.930T>G; p.N310K; 11:113829326-113829326 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1096G>A; p.E366K; 11:113827324-113827324 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.704C>T; p.P235L; 11:113833475-113833475 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>T; p.E285*; 11:113830924-113830924 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.1695T>C; p.S565S; 11:113813933-113813933 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.860C>T; p.P287L; 11:113830917-113830917 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1743G>T; p.Q581H; 11:113813885-113813885 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1687A>G; p.I563V; 11:113813941-113813941 |
kidney | other; neoplasm | Substitution - Missense |
c.949C>T; p.P317S; 11:113829307-113829307 |
skin | malignant_melanoma | Substitution - Missense |
c.949C>T; p.P317S; 11:113829307-113829307 |
skin | malignant_melanoma | Substitution - Missense |
c.1367C>T; p.P456L; 11:113817754-113817754 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2828C>T; p.S943F; 11:113803192-113803192 |
skin | malignant_melanoma | Substitution - Missense |
c.982G>A; p.E328K; 11:113829274-113829274 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.385G>A; p.A129T; 11:113840747-113840747 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.370A>G; p.N124D; 11:113841667-113841667 |
skin | malignant_melanoma | Substitution - Missense |
c.146G>T; p.G49V; 11:113852623-113852623 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.407G>A; p.R136H; 11:113840725-113840725 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2243A>G; p.Q748R; 11:113808359-113808359 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.601G>T; p.E201*; 11:113834269-113834269 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1857C>T; p.I619I; 11:113812391-113812391 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1467A>C; p.T489T; 11:113815379-113815379 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2952C>T; p.I984I; 11:113801589-113801589 |
skin | malignant_melanoma | Substitution - coding silent |
c.1672+1G>T; p.?; 11:113815173-113815173 |
lung | carcinoma; adenocarcinoma | Unknown |
c.3087T>C; p.F1029F; 11:113799387-113799387 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2687G>A; p.R896Q; 11:113803849-113803849 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2541G>T; p.L847L; 11:113804906-113804906 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2687G>A; p.R896Q; 11:113803849-113803849 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.695T>G; p.F232C; 11:113833484-113833484 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.504C>T; p.G168G; 11:113840628-113840628 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2530C>T; p.R844*; 11:113804917-113804917 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.256G>T; p.E86*; 11:113852513-113852513 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2530C>T; p.R844*; 11:113804917-113804917 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1739G>A; p.R580H; 11:113813889-113813889 |
liver | carcinoma | Substitution - Missense |
c.1061G>A; p.R354H; 11:113827359-113827359 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1739G>A; p.R580H; 11:113813889-113813889 |
liver | carcinoma | Substitution - Missense |
c.1357A>G; p.S453G; 11:113817764-113817764 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1680G>T; p.K560N; 11:113813948-113813948 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.535-1G>A; p.?; 11:113834336-113834336 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1438G>A; p.V480I; 11:113817683-113817683 |
oesophagus | carcinoma | Substitution - Missense |
c.1201A>T; p.S401C; 11:113823687-113823687 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1745T>C; p.V582A; 11:113812503-113812503 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2704C>T; p.L902F; 11:113803832-113803832 |
large_intestine | NS | Substitution - Missense |
c.1744-1G>T; p.?; 11:113812505-113812505 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1094T>C; p.F365S; 11:113827326-113827326 |
skin | malignant_melanoma | Substitution - Missense |
c.1217G>A; p.R406Q; 11:113823671-113823671 |
skin | malignant_melanoma | Substitution - Missense |
c.2473C>T; p.L825F; 11:113804974-113804974 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1217G>A; p.R406Q; 11:113823671-113823671 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1753C>T; p.R585C; 11:113812495-113812495 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1753C>T; p.R585C; 11:113812495-113812495 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1753C>T; p.R585C; 11:113812495-113812495 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2254A>G; p.N752D; 11:113808348-113808348 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1753C>T; p.R585C; 11:113812495-113812495 |
prostate | carcinoma | Substitution - Missense |
c.1886T>G; p.V629G; 11:113812362-113812362 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.145G>T; p.G49C; 11:113852624-113852624 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2912C>A; p.S971Y; 11:113801629-113801629 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2818delG; p.V940fs*5; 11:113803202-113803202 |
pancreas | carcinoma; acinar_carcinoma | Deletion - Frameshift |
c.931G>T; p.E311*; 11:113829325-113829325 |
breast | carcinoma | Substitution - Nonsense |
c.2953C>T; p.P985S; 11:113801588-113801588 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2400+2T>C; p.?; 11:113806487-113806487 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.2824G>T; p.E942*; 11:113803196-113803196 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2824G>T; p.E942*; 11:113803196-113803196 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2824G>T; p.E942*; 11:113803196-113803196 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1530C>G; p.P510P; 11:113815316-113815316 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2415A>T; p.E805D; 11:113805032-113805032 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.622-1G>A; p.?; 11:113833558-113833558 |
skin; trunk | malignant_melanoma | Unknown |
c.987T>A; p.C329*; 11:113829269-113829269 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.940G>A; p.G314S; 11:113829316-113829316 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.251A>G; p.N84S; 11:113852518-113852518 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.1609G>A; p.E537K; 11:113815237-113815237 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.889C>T; p.L297L; 11:113830888-113830888 |
skin | malignant_melanoma | Substitution - coding silent |
c.2050G>A; p.D684N; 11:113809177-113809177 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.929A>G; p.N310S; 11:113829327-113829327 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1796G>T; p.G599V; 11:113812452-113812452 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2050G>A; p.D684N; 11:113809177-113809177 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.3095G>A; p.R1032K; 11:113799379-113799379 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2937G>T; p.M979I; 11:113801604-113801604 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2052T>C; p.D684D; 11:113809175-113809175 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.867G>A; p.V289V; 11:113830910-113830910 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1135C>G; p.P379A; 11:113827285-113827285 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1412T>G; p.L471*; 11:113817709-113817709 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2893G>A; p.E965K; 11:113801648-113801648 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2893G>A; p.E965K; 11:113801648-113801648 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.3005C>T; p.A1002V; 11:113801536-113801536 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2893G>A; p.E965K; 11:113801648-113801648 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2893G>A; p.E965K; 11:113801648-113801648 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2025G>T; p.V675V; 11:113809202-113809202 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.322T>A; p.L108M; 11:113841715-113841715 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.65A>C; p.Q22P; 11:113854328-113854328 |
liver | carcinoma | Substitution - Missense |
c.500T>C; p.V167A; 11:113840632-113840632 |
skin | malignant_melanoma | Substitution - Missense |
c.142A>T; p.N48Y; 11:113852627-113852627 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.904C>T; p.R302C; 11:113830873-113830873 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.904C>T; p.R302C; 11:113830873-113830873 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1850A>G; p.N617S; 11:113812398-113812398 |
liver | carcinoma | Substitution - Missense |
c.3150A>G; p.R1050R; 11:113799324-113799324 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1850A>G; p.N617S; 11:113812398-113812398 |
liver | carcinoma | Substitution - Missense |
c.904C>T; p.R302C; 11:113830873-113830873 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.142A>T; p.N48Y; 11:113852627-113852627 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2605C>T; p.Q869*; 11:113804726-113804726 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1591C>T; p.R531*; 11:113815255-113815255 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.2547G>A; p.Q849Q; 11:113804900-113804900 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2662T>C; p.W888R; 11:113803874-113803874 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2662T>C; p.W888R; 11:113803874-113803874 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2047G>T; p.E683*; 11:113809180-113809180 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Nonsense |
c.2240C>T; p.A747V; 11:113808362-113808362 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3107C>T; p.P1036L; 11:113799367-113799367 |
liver | carcinoma | Substitution - Missense |
c.1805G>A; p.W602*; 11:113812443-113812443 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.610C>G; p.R204G; 11:113834260-113834260 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.911-2A>G; p.?; 11:113829347-113829347 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.3149G>A; p.R1050Q; 11:113799325-113799325 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.911G>A; p.G304E; 11:113829345-113829345 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.629G>T; p.R210I; 11:113833550-113833550 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.629G>T; p.R210I; 11:113833550-113833550 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.79C>T; p.Q27*; 11:113854314-113854314 |
breast | carcinoma | Substitution - Nonsense |
c.2059C>T; p.R687W; 11:113809168-113809168 |
pancreas | carcinoma | Substitution - Missense |
c.2059C>T; p.R687W; 11:113809168-113809168 |
pancreas | carcinoma | Substitution - Missense |
c.2059C>T; p.R687W; 11:113809168-113809168 |
pancreas | carcinoma | Substitution - Missense |
c.2686C>T; p.R896*; 11:113803850-113803850 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2673T>G; p.D891E; 11:113803863-113803863 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.941G>A; p.G314D; 11:113829315-113829315 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.883A>C; p.T295P; 11:113830894-113830894 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.748G>T; p.E250*; 11:113833431-113833431 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.740G>A; p.R247Q; 11:113833439-113833439 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1106G>T; p.R369I; 11:113827314-113827314 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2019A>T; p.L673L; 11:113809208-113809208 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2483T>A; p.V828D; 11:113804964-113804964 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3148C>T; p.R1050*; 11:113799326-113799326 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.305T>C; p.L102P; 11:113841732-113841732 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.855A>G; p.E285E; 11:113830922-113830922 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3178C>T; p.R1060*; 11:113799296-113799296 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1996C>T; p.Q666*; 11:113809231-113809231 |
skin | malignant_melanoma | Substitution - Nonsense |
c.998C>T; p.A333V; 11:113829258-113829258 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2829C>T; p.S943S; 11:113803191-113803191 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2321C>G; p.A774G; 11:113806568-113806568 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2391G>A; p.G797G; 11:113806498-113806498 |
skin | malignant_melanoma | Substitution - coding silent |
c.2513C>T; p.P838L; 11:113804934-113804934 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1925C>T; p.A642V; 11:113812323-113812323 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1111G>C; p.E371Q; 11:113827309-113827309 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.971G>A; p.R324H; 11:113829285-113829285 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.970C>T; p.R324C; 11:113829286-113829286 |
skin | malignant_melanoma | Substitution - Missense |
c.1165C>T; p.P389S; 11:113827255-113827255 |
skin | malignant_melanoma | Substitution - Missense |
c.3137C>A; p.P1046H; 11:113799337-113799337 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.760-1G>A; p.?; 11:113831994-113831994 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1125C>T; p.S375S; 11:113827295-113827295 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - coding silent |
c.739C>T; p.R247*; 11:113833440-113833440 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.867G>T; p.V289V; 11:113830910-113830910 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1120C>T; p.Q374*; 11:113827300-113827300 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1790A>G; p.N597S; 11:113812458-113812458 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3004G>A; p.A1002T; 11:113801537-113801537 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1661A>G; p.Q554R; 11:113815185-113815185 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.428A>G; p.E143G; 11:113840704-113840704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1926T>C; p.A642A; 11:113812322-113812322 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.686A>G; p.N229S; 11:113833493-113833493 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2738+2T>C; p.?; 11:113803796-113803796 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.338C>T; p.S113F; 11:113841699-113841699 |
liver | carcinoma | Substitution - Missense |
c.338C>T; p.S113F; 11:113841699-113841699 |
liver | carcinoma | Substitution - Missense |
c.705G>A; p.P235P; 11:113833474-113833474 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.538C>T; p.L180F; 11:113834332-113834332 |
skin | malignant_melanoma | Substitution - Missense |
c.705G>A; p.P235P; 11:113833474-113833474 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2359C>T; p.Q787*; 11:113806530-113806530 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2663G>A; p.W888*; 11:113803873-113803873 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.1027C>T; p.P343S; 11:113829229-113829229 |
skin | malignant_melanoma | Substitution - Missense |
c.484G>T; p.V162F; 11:113840648-113840648 |
prostate | carcinoma | Substitution - Missense |
c.2357G>A; p.R786H; 11:113806532-113806532 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.532C>T; p.Q178*; 11:113840600-113840600 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2051A>G; p.D684G; 11:113809176-113809176 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1289T>C; p.V430A; 11:113817832-113817832 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2945T>C; p.L982P; 11:113801596-113801596 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.743C>T; p.S248L; 11:113833436-113833436 |
breast | carcinoma | Substitution - Missense |
c.763G>C; p.D255H; 11:113831990-113831990 |
breast | carcinoma | Substitution - Missense |
c.454A>G; p.N152D; 11:113840678-113840678 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.454A>G; p.N152D; 11:113840678-113840678 |
pancreas | carcinoma | Substitution - Missense |
c.915delA; p.K305fs*16; 11:113829341-113829341 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1406T>C; p.M469T; 11:113817715-113817715 |
liver | carcinoma | Substitution - Missense |
c.1406T>C; p.M469T; 11:113817715-113817715 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2974A>C; p.N992H; 11:113801567-113801567 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.341C>T; p.P114L; 11:113841696-113841696 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1106G>C; p.R369T; 11:113827314-113827314 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1106G>C; p.R369T; 11:113827314-113827314 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2562T>A; p.N854K; 11:113804885-113804885 |
skin | malignant_melanoma | Substitution - Missense |
c.2876A>G; p.K959R; 11:113801665-113801665 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2914G>A; p.V972I; 11:113801627-113801627 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1350A>G; p.E450E; 11:113817771-113817771 |
liver | carcinoma | Substitution - coding silent |
c.1350A>G; p.E450E; 11:113817771-113817771 |
liver | carcinoma | Substitution - coding silent |
c.2756C>T; p.S919F; 11:113803264-113803264 |
skin | malignant_melanoma | Substitution - Missense |
c.1350A>G; p.E450E; 11:113817771-113817771 |
liver | carcinoma | Substitution - coding silent |
c.1350A>G; p.E450E; 11:113817771-113817771 |
liver | carcinoma | Substitution - coding silent |
c.2857C>T; p.L953F; 11:113803163-113803163 |
skin | malignant_melanoma | Substitution - Missense |
c.2077G>C; p.E693Q; 11:113809150-113809150 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1283G>C; p.R428T; 11:113823605-113823605 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2722C>G; p.L908V; 11:113803814-113803814 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2939A>C; p.N980T; 11:113801602-113801602 |
liver | carcinoma | Substitution - Missense |
c.2939A>C; p.N980T; 11:113801602-113801602 |
liver | carcinoma | Substitution - Missense |
c.3133G>A; p.E1045K; 11:113799341-113799341 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.759+2T>C; p.?; 11:113833418-113833418 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.3138T>C; p.P1046P; 11:113799336-113799336 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.571C>T; p.L191F; 11:113834299-113834299 |
prostate | adenoma | Substitution - Missense |
c.3033C>A; p.C1011*; 11:113801508-113801508 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3158C>A; p.S1053Y; 11:113799316-113799316 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.536C>G; p.S179C; 11:113834334-113834334 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1874C>T; p.S625F; 11:113812374-113812374 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3140C>A; p.P1047Q; 11:113799334-113799334 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.559C>T; p.R187*; 11:113834311-113834311 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.559C>T; p.R187*; 11:113834311-113834311 |
thyroid | carcinoma | Substitution - Nonsense |
c.559C>T; p.R187*; 11:113834311-113834311 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1861G>T; p.V621F; 11:113812387-113812387 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.610C>T; p.R204*; 11:113834260-113834260 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2879C>A; p.A960E; 11:113801662-113801662 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.610C>T; p.R204*; 11:113834260-113834260 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.610C>T; p.R204*; 11:113834260-113834260 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2040C>A; p.Y680*; 11:113809187-113809187 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Nonsense |
c.1933C>G; p.L645V; 11:113812315-113812315 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.683C>G; p.S228*; 11:113833496-113833496 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.683C>G; p.S228*; 11:113833496-113833496 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.683C>G; p.S228*; 11:113833496-113833496 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |