General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 4089 |
Name | SMAD4 |
Synonymous | SMAD family member 4;SMAD4;SMAD family member 4 |
Definition | MAD homolog 4|SMAD, mothers against DPP homolog 4|deleted in pancreatic carcinoma locus 4|deletion target in pancreatic carcinoma 4|mothers against decapentaplegic homolog 4|mothers against decapentaplegic, Drosophila, homolog of, 4 |
Position | 18q21.1 |
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 0.33. |
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.68T>G; p.L23W; 18:51047114-51047114 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.68T>G; p.L23W; 18:51047114-51047114 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.741A>G; p.G247G; 18:51058198-51058198 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.68T>G; p.L23W; 18:51047114-51047114 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.68T>G; p.L23W; 18:51047114-51047114 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.68T>G; p.L23W; 18:51047114-51047114 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.68T>G; p.L23W; 18:51047114-51047114 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.68T>G; p.L23W; 18:51047114-51047114 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1547A>G; p.Q516R; 18:51078355-51078355 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1547A>G; p.Q516R; 18:51078355-51078355 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1321C>A; p.R441S; 18:51076650-51076650 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.322G>T; p.E108*; 18:51048758-51048758 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1321C>A; p.R441S; 18:51076650-51076650 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1658G>C; p.*553S; 18:51078466-51078466 |
pancreas | carcinoma | Nonstop extension |
c.310C>T; p.L104F; 18:51048746-51048746 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.247C>T; p.Q83*; 18:51047293-51047293 |
pancreas | NS | Substitution - Nonsense |
c.247C>T; p.Q83*; 18:51047293-51047293 |
breast | carcinoma; lobular_carcinoma | Substitution - Nonsense |
c.1294A>G; p.S432G; 18:51067173-51067173 |
thyroid | adenoma-nodule-goitre | Substitution - Missense |
c.1479T>C; p.D493D; 18:51078287-51078287 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.745C>T; p.Q249*; 18:51058202-51058202 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1049T>C; p.V350A; 18:51065516-51065516 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.439_440delAC; p.L148fs*3; 18:51049309-51049310 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1260T>C; p.R420R; 18:51067139-51067139 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.439_440delAC; p.L148fs*3; 18:51049309-51049310 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1613A>G; p.E538G; 18:51078421-51078421 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.989A>G; p.E330G; 18:51065456-51065456 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.431C>G; p.S144*; 18:51049301-51049301 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.431C>G; p.S144*; 18:51049301-51049301 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.431C>G; p.S144*; 18:51049301-51049301 |
breast | carcinoma | Substitution - Nonsense |
c.1247G>T; p.R416I; 18:51067126-51067126 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1064A>G; p.D355G; 18:51065531-51065531 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1055G>T; p.G352V; 18:51065522-51065522 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1579A>G; p.I527V; 18:51078387-51078387 |
thyroid | adenoma-nodule-goitre; Hurthle_cell_adenoma | Substitution - Missense |
c.1055G>T; p.G352V; 18:51065522-51065522 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1064A>G; p.D355G; 18:51065531-51065531 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1055G>T; p.G352V; 18:51065522-51065522 |
pancreas | carcinoma | Substitution - Missense |
c.1064A>G; p.D355G; 18:51065531-51065531 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.585C>A; p.Y195*; 18:51054911-51054911 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1055G>T; p.G352V; 18:51065522-51065522 |
pancreas | carcinoma | Substitution - Missense |
c.1064A>G; p.D355G; 18:51065531-51065531 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1055G>T; p.G352V; 18:51065522-51065522 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1579A>G; p.I527V; 18:51078387-51078387 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1064A>G; p.D355G; 18:51065531-51065531 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1016T>A; p.F339Y; 18:51065483-51065483 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1157G>T; p.G386V; 18:51067036-51067036 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1139G>A; p.R380K; 18:51065606-51065606 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1157G>T; p.G386V; 18:51067036-51067036 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1157G>T; p.G386V; 18:51067036-51067036 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1157G>T; p.G386V; 18:51067036-51067036 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1157G>T; p.G386V; 18:51067036-51067036 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.440C>T; p.T147I; 18:51049310-51049310 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1016T>C; p.F339S; 18:51065483-51065483 |
thyroid | carcinoma; Hurthle_cell_carcinoma | Substitution - Missense |
c.1482C>T; p.D494D; 18:51078290-51078290 |
thyroid | carcinoma; papillary_carcinoma | Substitution - coding silent |
c.1648_1659del12; p.?; 18:51078456-51078485 |
large_intestine; appendix | carcinoma; adenocarcinoma | Unknown |
c.1619T>G; p.L540R; 18:51078427-51078427 |
pancreas | carcinoma | Substitution - Missense |
c.1619T>G; p.L540R; 18:51078427-51078427 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1619T>G; p.L540R; 18:51078427-51078427 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1648C>T; p.P550S; 18:51078456-51078456 |
thyroid | carcinoma; papillary_carcinoma | Substitution - Missense |
c.1619T>G; p.L540R; 18:51078427-51078427 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1619T>G; p.L540R; 18:51078427-51078427 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1301_1302insT; p.I435fs*5; 18:51067180-51067181 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.1619T>G; p.L540R; 18:51078427-51078427 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1020G>C; p.K340N; 18:51065487-51065487 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1619T>G; p.L540R; 18:51078427-51078427 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1619T>G; p.L540R; 18:51078427-51078427 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1020G>C; p.K340N; 18:51065487-51065487 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
breast | carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.382G>A; p.V128M; 18:51048818-51048818 |
thyroid | adenoma-nodule-goitre; Hurthle_cell_adenoma | Substitution - Missense |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.437T>G; p.L146*; 18:51049307-51049307 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
large_intestine | carcinoma; adenocarcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1129_1130delGA; p.R378fs*14; 18:51065596-51065597 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1514T>A; p.F505Y; 18:51078322-51078322 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
stomach | carcinoma; adenocarcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
breast | carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
oesophagus | carcinoma; adenocarcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1_1659del1659; p.0?; 18:51047047-51078467 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1242_1245delAGAC; p.D415fs*20; 18:51067121-51067124 |
stomach | carcinoma; diffuse_adenocarcinoma | Deletion - Frameshift |
c.1258C>T; p.R420C; 18:51067137-51067137 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.633T>C; p.T211T; 18:51054959-51054959 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - coding silent |
c.690G>T; p.G230G; 18:51058147-51058147 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1242_1245delAGAC; p.D415fs*20; 18:51067121-51067124 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1057T>A; p.Y353N; 18:51065524-51065524 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1529G>T; p.G510V; 18:51078337-51078337 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1529G>T; p.G510V; 18:51078337-51078337 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1072G>T; p.G358*; 18:51065539-51065539 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1072G>T; p.G358*; 18:51065539-51065539 |
pancreas | other; chronic_pancreatitis | Substitution - Nonsense |
c.993G>A; p.M331I; 18:51065460-51065460 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1072G>T; p.G358*; 18:51065539-51065539 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.1072G>T; p.G358*; 18:51065539-51065539 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.123A>G; p.E41E; 18:51047169-51047169 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.90A>G; p.G30G; 18:51047136-51047136 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1248A>C; p.R416S; 18:51067127-51067127 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.284A>C; p.Y95S; 18:51048720-51048720 |
pancreas | NS | Substitution - Missense |
c.1472G>T; p.G491V; 18:51078280-51078280 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1283A>T; p.K428M; 18:51067162-51067162 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1504A>G; p.R502G; 18:51078312-51078312 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.971G>A; p.C324Y; 18:51065438-51065438 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.971G>A; p.C324Y; 18:51065438-51065438 |
thyroid | carcinoma; papillary_carcinoma | Substitution - Missense |
c.1505G>A; p.R502K; 18:51078313-51078313 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1504A>G; p.R502G; 18:51078312-51078312 |
biliary_tract; bile_duct | carcinoma | Substitution - Missense |
c.1394_1395insT; p.A466fs*28; 18:51076723-51076724 |
testis | germ_cell_tumour; seminoma | Insertion - Frameshift |
c.1394_1395insT; p.A466fs*28; 18:51076723-51076724 |
testis | germ_cell_tumour; seminoma | Insertion - Frameshift |
c.1539C>G; p.Y513*; 18:51078347-51078347 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.140T>A; p.L47Q; 18:51047186-51047186 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.585delC; p.Y195fs*1; 18:51054911-51054911 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.1157G>A; p.G386D; 18:51067036-51067036 |
pancreas | carcinoma | Substitution - Missense |
c.1157G>A; p.G386D; 18:51067036-51067036 |
small_intestine; duodenum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1157G>A; p.G386D; 18:51067036-51067036 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Missense |
c.1558G>T; p.E520*; 18:51078366-51078366 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1054G>A; p.G352R; 18:51065521-51065521 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1067_1068CT>AGAAG; p.P356>QK; 18:51065534-51065535 |
large_intestine | carcinoma; adenocarcinoma | Complex - insertion inframe |
c.1157G>A; p.G386D; 18:51067036-51067036 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1157G>A; p.G386D; 18:51067036-51067036 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.1194G>A; p.W398*; 18:51067073-51067073 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1157G>A; p.G386D; 18:51067036-51067036 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.1157G>A; p.G386D; 18:51067036-51067036 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1157G>A; p.G386D; 18:51067036-51067036 |
pancreas | carcinoma | Substitution - Missense |
c.1157G>A; p.G386D; 18:51067036-51067036 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1054G>A; p.G352R; 18:51065521-51065521 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1157G>A; p.G386D; 18:51067036-51067036 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1157G>A; p.G386D; 18:51067036-51067036 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1157G>A; p.G386D; 18:51067036-51067036 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.395A>T; p.H132L; 18:51048831-51048831 |
small_intestine; ileum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1065C>A; p.D355E; 18:51065532-51065532 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.676G>A; p.A226T; 18:51058133-51058133 |
thyroid | carcinoma; papillary_carcinoma | Substitution - Missense |
c.655G>T; p.V219L; 18:51054981-51054981 |
ovary | other; neoplasm | Substitution - Missense |
c.1234T>C; p.Y412H; 18:51067113-51067113 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1450C>T; p.L484L; 18:51078258-51078258 |
pancreas | carcinoma | Substitution - coding silent |
c.1139+3A>T; p.?; 18:51065609-51065609 |
pancreas | carcinoma | Unknown |
c.988G>T; p.E330*; 18:51065455-51065455 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1595C>A; p.A532D; 18:51078403-51078403 |
pancreas | carcinoma | Substitution - Missense |
c.1288T>G; p.Y430D; 18:51067167-51067167 |
pancreas | carcinoma | Substitution - Missense |
c.1658G>T; p.*553?; 18:51078466-51078466 |
large_intestine | carcinoma; adenocarcinoma | Nonstop extension |
c.1658G>T; p.*553?; 18:51078466-51078466 |
large_intestine; colon | carcinoma; adenocarcinoma | Nonstop extension |
c.1595C>A; p.A532D; 18:51078403-51078403 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1349_1376del28; p.Q450fs*17; 18:51076678-51076705 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.407T>C; p.V136A; 18:51048843-51048843 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1309-1G>A; p.?; 18:51076637-51076637 |
pancreas | carcinoma | Unknown |
c.1598T>C; p.L533P; 18:51078406-51078406 |
pancreas | carcinoma | Substitution - Missense |
c.980C>T; p.A327V; 18:51065447-51065447 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.153_154insA; p.K51fs*2; 18:51047199-51047200 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1087T>A; p.C363S; 18:51065554-51065554 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.394C>T; p.H132Y; 18:51048830-51048830 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.968G>A; p.W323*; 18:51065435-51065435 |
pancreas | carcinoma | Substitution - Nonsense |
c.153_154insA; p.K51fs*2; 18:51047199-51047200 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.153_154insA; p.K51fs*2; 18:51047199-51047200 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.394C>T; p.H132Y; 18:51048830-51048830 |
breast | carcinoma | Substitution - Missense |
c.1087T>A; p.C363S; 18:51065554-51065554 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.872A>C; p.H291P; 18:51058424-51058424 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.872A>C; p.H291P; 18:51058424-51058424 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1321C>T; p.R441C; 18:51076650-51076650 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.481G>A; p.E161K; 18:51054807-51054807 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1475T>C; p.V492A; 18:51078283-51078283 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1512T>A; p.S504R; 18:51078320-51078320 |
ovary | carcinoma | Substitution - Missense |
c.1614A>G; p.E538E; 18:51078422-51078422 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1392C>T; p.A464A; 18:51076721-51076721 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1512T>A; p.S504R; 18:51078320-51078320 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1321C>T; p.R441C; 18:51076650-51076650 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1321C>T; p.R441C; 18:51076650-51076650 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.757_758delTT; p.F253fs*10; 18:51058214-51058215 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.1512T>A; p.S504R; 18:51078320-51078320 |
pancreas | carcinoma | Substitution - Missense |
c.1321C>T; p.R441C; 18:51076650-51076650 |
large_intestine; rectum | NS | Substitution - Missense |
c.1321C>T; p.R441C; 18:51076650-51076650 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.806_807insT; p.G270fs*3; 18:51058358-51058359 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.931C>T; p.Q311*; 18:51059892-51059892 |
large_intestine; colon | carcinoma | Substitution - Nonsense |
c.608C>T; p.P203L; 18:51054934-51054934 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.931C>T; p.Q311*; 18:51059892-51059892 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.931C>T; p.Q311*; 18:51059892-51059892 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1138A>T; p.R380W; 18:51065605-51065605 |
pancreas | carcinoma | Substitution - Missense |
c.931C>T; p.Q311*; 18:51059892-51059892 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.931C>T; p.Q311*; 18:51059892-51059892 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.608C>T; p.P203L; 18:51054934-51054934 |
thyroid | adenoma-nodule-goitre | Substitution - Missense |
c.931C>T; p.Q311*; 18:51059892-51059892 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1409C>A; p.P470H; 18:51076738-51076738 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.590C>T; p.T197I; 18:51054916-51054916 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.931C>T; p.Q311*; 18:51059892-51059892 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1484T>C; p.L495P; 18:51078292-51078292 |
ovary | carcinoma | Substitution - Missense |
c.737C>T; p.P246L; 18:51058194-51058194 |
pancreas | other; dysplasia-in_situ_neoplasm | Substitution - Missense |
c.1341_1365del25; p.Q448fs*20; 18:51076670-51076694 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1341_1365del25; p.Q448fs*20; 18:51076670-51076694 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.353C>T; p.A118V; 18:51048789-51048789 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.353C>T; p.A118V; 18:51048789-51048789 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.353C>T; p.A118V; 18:51048789-51048789 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1576G>T; p.E526*; 18:51078384-51078384 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.966T>A; p.Y322*; 18:51065433-51065433 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.1576G>T; p.E526*; 18:51078384-51078384 |
breast | carcinoma | Substitution - Nonsense |
c.353C>T; p.A118V; 18:51048789-51048789 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.353C>T; p.A118V; 18:51048789-51048789 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.353C>T; p.A118V; 18:51048789-51048789 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.966T>A; p.Y322*; 18:51065433-51065433 |
pancreas | carcinoma | Substitution - Nonsense |
c.1369G>A; p.A457T; 18:51076698-51076698 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1576G>T; p.E526*; 18:51078384-51078384 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.353C>T; p.A118V; 18:51048789-51048789 |
pancreas | carcinoma | Substitution - Missense |
c.906G>A; p.W302*; 18:51059867-51059867 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1576G>T; p.E526*; 18:51078384-51078384 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.353C>T; p.A118V; 18:51048789-51048789 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.906G>A; p.W302*; 18:51059867-51059867 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.353C>T; p.A118V; 18:51048789-51048789 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1256G>T; p.G419V; 18:51067135-51067135 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.996T>A; p.D332E; 18:51065463-51065463 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.611C>A; p.S204Y; 18:51054937-51054937 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1256G>T; p.G419V; 18:51067135-51067135 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1598T>G; p.L533R; 18:51078406-51078406 |
large_intestine; colon | NS | Substitution - Missense |
c.1598T>G; p.L533R; 18:51078406-51078406 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1053T>C; p.D351D; 18:51065520-51065520 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1293delA; p.S432fs*4; 18:51067172-51067172 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.88G>T; p.G30*; 18:51047134-51047134 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1064A>T; p.D355V; 18:51065531-51065531 |
pancreas | carcinoma | Substitution - Missense |
c.1064A>T; p.D355V; 18:51065531-51065531 |
pancreas | carcinoma | Substitution - Missense |
c.397T>A; p.Y133N; 18:51048833-51048833 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1029A>G; p.S343S; 18:51065496-51065496 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1565C>T; p.P522L; 18:51078373-51078373 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1657T>G; p.*553G; 18:51078465-51078465 |
pancreas | carcinoma | Nonstop extension |
c.1526G>A; p.W509*; 18:51078334-51078334 |
prostate | carcinoma | Substitution - Nonsense |
c.1216G>A; p.A406T; 18:51067095-51067095 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1216G>A; p.A406T; 18:51067095-51067095 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1081C>G; p.R361G; 18:51065548-51065548 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1216G>A; p.A406T; 18:51067095-51067095 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.298A>G; p.R100G; 18:51048734-51048734 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.298A>G; p.R100G; 18:51048734-51048734 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.298A>G; p.R100G; 18:51048734-51048734 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>G; p.R361G; 18:51065548-51065548 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1216G>A; p.A406T; 18:51067095-51067095 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>G; p.R361G; 18:51065548-51065548 |
pancreas | carcinoma | Substitution - Missense |
c.1216G>A; p.A406T; 18:51067095-51067095 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.992T>C; p.M331T; 18:51065459-51065459 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.992T>C; p.M331T; 18:51065459-51065459 |
thyroid | carcinoma; Hurthle_cell_carcinoma | Substitution - Missense |
c.257G>T; p.G86V; 18:51048693-51048693 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1598_1599insCAG; p.L533_Q534insS; 18:51078406-51078407 |
pancreas | carcinoma | Insertion - In frame |
c.257G>T; p.G86V; 18:51048693-51048693 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.850C>T; p.Q284*; 18:51058402-51058402 |
pancreas | carcinoma | Substitution - Nonsense |
c.956-2G>A; p.?; 18:51065421-51065421 |
pancreas | carcinoma; ductal_carcinoma | Unknown |
c.951T>A; p.H317Q; 18:51059912-51059912 |
thyroid | adenoma-nodule-goitre | Substitution - Missense |
c.1447+1G>C; p.?; 18:51076777-51076777 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.607_608delCC; p.P203fs*2; 18:51054933-51054934 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.106_135del30; p.A36_K45del10; 18:51047152-51047181 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.1516G>A; p.V506M; 18:51078324-51078324 |
large_intestine; appendix | carcinoma; adenocarcinoma | Substitution - Missense |
c.1229_1230insCA; p.Q410fs*6; 18:51067108-51067109 |
pancreas | NS | Insertion - Frameshift |
c.1229_1230insCA; p.Q410fs*6; 18:51067108-51067109 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.430T>C; p.S144P; 18:51049300-51049300 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.990A>G; p.E330E; 18:51065457-51065457 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1600delC; p.Q534fs*3; 18:51078408-51078408 |
pancreas | NS | Deletion - Frameshift |
c.1283A>G; p.K428R; 18:51067162-51067162 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.1018A>G; p.K340E; 18:51065485-51065485 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1018A>G; p.K340E; 18:51065485-51065485 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1609G>T; p.D537Y; 18:51078417-51078417 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1609G>T; p.D537Y; 18:51078417-51078417 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1612G>A; p.E538K; 18:51078420-51078420 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1612G>A; p.E538K; 18:51078420-51078420 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1093G>C; p.G365R; 18:51065560-51065560 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1609G>T; p.D537Y; 18:51078417-51078417 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1609G>T; p.D537Y; 18:51078417-51078417 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1138A>G; p.R380G; 18:51065605-51065605 |
pancreas | carcinoma | Substitution - Missense |
c.1609G>T; p.D537Y; 18:51078417-51078417 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.573G>A; p.S191S; 18:51054899-51054899 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.573G>A; p.S191S; 18:51054899-51054899 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1509G>T; p.M503I; 18:51078317-51078317 |
pancreas | carcinoma | Substitution - Missense |
c.1066C>T; p.P356S; 18:51065533-51065533 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1066C>T; p.P356S; 18:51065533-51065533 |
liver | carcinoma | Substitution - Missense |
c.956-1G>C; p.?; 18:51065422-51065422 |
lung | carcinoma; adenocarcinoma | Unknown |
c.353C>A; p.A118E; 18:51048789-51048789 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.252G>T; p.V84V; 18:51048688-51048688 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1145A>T; p.H382L; 18:51067024-51067024 |
pancreas | carcinoma | Substitution - Missense |
c.1066C>T; p.P356S; 18:51065533-51065533 |
liver | carcinoma | Substitution - Missense |
c.1546_1553delCAGAGCAT; p.S517fs*7; 18:51078354-51078361 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.1546_1553delCAGAGCAT; p.S517fs*7; 18:51078354-51078361 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.976A>C; p.I326L; 18:51065443-51065443 |
liver | carcinoma | Substitution - Missense |
c.1066C>T; p.P356S; 18:51065533-51065533 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.426T>C; p.D142D; 18:51049296-51049296 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1064A>C; p.D355A; 18:51065531-51065531 |
large_intestine; colon | adenoma | Substitution - Missense |
c.74G>A; p.C25Y; 18:51047120-51047120 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1591C>T; p.R531W; 18:51078399-51078399 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1591C>T; p.R531W; 18:51078399-51078399 |
pancreas | carcinoma | Substitution - Missense |
c.1591C>T; p.R531W; 18:51078399-51078399 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.74G>A; p.C25Y; 18:51047120-51047120 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.169T>G; p.L57V; 18:51047215-51047215 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.193G>A; p.G65R; 18:51047239-51047239 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.349T>C; p.Y117H; 18:51048785-51048785 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
pancreas | carcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
pancreas | carcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
pancreas | carcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
breast | carcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.974_975delCC; p.S325fs*5; 18:51065441-51065442 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1082G>A; p.R361H; 18:51065549-51065549 |
pancreas | carcinoma | Substitution - Missense |
c.1067_1068delCT; p.P356fs*21; 18:51065534-51065535 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Deletion - Frameshift |
c.1283A>C; p.K428T; 18:51067162-51067162 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1607_1607delT; p.L536fs*16; 18:51078415-51078415 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1283A>C; p.K428T; 18:51067162-51067162 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.320_321insA; p.N107fs*2; 18:51048756-51048757 |
pancreas | NS | Insertion - Frameshift |
c.1481A>G; p.D494G; 18:51078289-51078289 |
pancreas | NS | Substitution - Missense |
c.1481A>G; p.D494G; 18:51078289-51078289 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1481A>G; p.D494G; 18:51078289-51078289 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1481A>G; p.D494G; 18:51078289-51078289 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1481A>G; p.D494G; 18:51078289-51078289 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1029A>T; p.S343S; 18:51065496-51065496 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.295T>C; p.W99R; 18:51048731-51048731 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.170T>C; p.L57S; 18:51047216-51047216 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.895G>A; p.G299R; 18:51058447-51058447 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.973_976delTCCA; p.S325fs*10; 18:51065440-51065443 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1015_1029del15; p.F339_S343del; 18:51065482-51065496 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.383T>C; p.V128A; 18:51048819-51048819 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1447_1447+3delAGTA; p.?; 18:51076776-51076779 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Unknown |
c.170T>C; p.L57S; 18:51047216-51047216 |
pancreas | carcinoma | Substitution - Missense |
c.1015_1029del15; p.F339_S343del; 18:51065482-51065496 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.828C>A; p.Y276*; 18:51058380-51058380 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.383T>C; p.V128A; 18:51048819-51048819 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1468A>G; p.I490V; 18:51078276-51078276 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1480G>A; p.D494N; 18:51078288-51078288 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1156G>T; p.G386C; 18:51067035-51067035 |
ovary | carcinoma | Substitution - Missense |
c.1511G>T; p.S504I; 18:51078319-51078319 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1369G>T; p.A457S; 18:51076698-51076698 |
pancreas | carcinoid-endocrine_tumour; non_functioning | Substitution - Missense |
c.924T>C; p.L308L; 18:51059885-51059885 |
thyroid | adenoma-nodule-goitre | Substitution - coding silent |
c.924T>C; p.L308L; 18:51059885-51059885 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1490G>A; p.R497H; 18:51078298-51078298 |
biliary_tract; bile_duct | carcinoma | Substitution - Missense |
c.275delA; p.H92fs*2; 18:51048711-51048711 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.1490G>A; p.R497H; 18:51078298-51078298 |
large_intestine | adenoma | Substitution - Missense |
c.1476T>C; p.V492V; 18:51078284-51078284 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1148T>G; p.I383R; 18:51067027-51067027 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.984C>T; p.Y328Y; 18:51065451-51065451 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.394C>A; p.H132N; 18:51048830-51048830 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1527G>A; p.W509*; 18:51078335-51078335 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.314_317delACAA; p.H105fs*4; 18:51048750-51048753 |
pancreas | NS | Deletion - Frameshift |
c.1527G>A; p.W509*; 18:51078335-51078335 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.394C>A; p.H132N; 18:51048830-51048830 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.1611C>A; p.D537E; 18:51078419-51078419 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1611C>A; p.D537E; 18:51078419-51078419 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1474G>T; p.V492F; 18:51078282-51078282 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1474G>T; p.V492F; 18:51078282-51078282 |
biliary_tract; bile_duct | carcinoma | Substitution - Missense |
c.1009G>A; p.E337K; 18:51065476-51065476 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1236C>G; p.Y412*; 18:51067115-51067115 |
pancreas | carcinoma | Substitution - Nonsense |
c.968_974delGGTGTTC; p.W323fs*11; 18:51065435-51065441 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.692_693insG; p.S232fs*3; 18:51058149-51058150 |
pancreas | NS | Insertion - Frameshift |
c.250-2A>G; p.?; 18:51048684-51048684 |
pancreas | carcinoma; ductal_carcinoma | Unknown |
c.250-2A>G; p.?; 18:51048684-51048684 |
pancreas | carcinoma | Unknown |
c.1236C>G; p.Y412*; 18:51067115-51067115 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.1236C>G; p.Y412*; 18:51067115-51067115 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.1255G>A; p.G419R; 18:51067134-51067134 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1249G>T; p.E417*; 18:51067128-51067128 |
pancreas | carcinoma | Substitution - Nonsense |
c.1249G>T; p.E417*; 18:51067128-51067128 |
pancreas | carcinoma | Substitution - Nonsense |
c.1156G>A; p.G386S; 18:51067035-51067035 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.991A>G; p.M331V; 18:51065458-51065458 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1249G>T; p.E417*; 18:51067128-51067128 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.1156G>A; p.G386S; 18:51067035-51067035 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.502G>T; p.G168*; 18:51054828-51054828 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1001A>G; p.Q334R; 18:51065468-51065468 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.502G>T; p.G168*; 18:51054828-51054828 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1001A>G; p.Q334R; 18:51065468-51065468 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1355_1356insT; p.T453fs*41; 18:51076684-51076685 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.1630C>T; p.P544S; 18:51078438-51078438 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.461C>G; p.S154*; 18:51054787-51054787 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1001A>G; p.Q334R; 18:51065468-51065468 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1576G>A; p.E526K; 18:51078384-51078384 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.502G>T; p.G168*; 18:51054828-51054828 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1576G>A; p.E526K; 18:51078384-51078384 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.994G>T; p.D332Y; 18:51065461-51065461 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1001A>G; p.Q334R; 18:51065468-51065468 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1548_1555delGAGCATCA; p.S517fs*7; 18:51078356-51078363 |
pancreas | NS | Deletion - Frameshift |
c.1241_1242insAA; p.D415fs*22; 18:51067120-51067121 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.1519A>C; p.K507Q; 18:51078327-51078327 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1519A>C; p.K507Q; 18:51078327-51078327 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.157G>T; p.E53*; 18:51047203-51047203 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1055G>C; p.G352A; 18:51065522-51065522 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1521A>G; p.K507K; 18:51078329-51078329 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1521A>G; p.K507K; 18:51078329-51078329 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.941T>A; p.I314N; 18:51059902-51059902 |
thyroid | adenoma-nodule-goitre; Hurthle_cell_adenoma | Substitution - Missense |
c.1378G>T; p.A460S; 18:51076707-51076707 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.153A>G; p.K51K; 18:51047199-51047199 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1521A>G; p.K507K; 18:51078329-51078329 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.370G>T; p.D124Y; 18:51048806-51048806 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1255G>T; p.G419W; 18:51067134-51067134 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.686_687insG; p.S232fs*3; 18:51058143-51058144 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.363_364insA; p.C123fs*2; 18:51048799-51048800 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.686_687insG; p.S232fs*3; 18:51058143-51058144 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.153A>G; p.K51K; 18:51047199-51047199 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.363_364insA; p.C123fs*2; 18:51048799-51048800 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.153A>G; p.K51K; 18:51047199-51047199 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.208A>T; p.K70*; 18:51047254-51047254 |
pancreas | carcinoma | Substitution - Nonsense |
c.1447+5G>A; p.?; 18:51076781-51076781 |
large_intestine | carcinoma; adenocarcinoma | Unknown |
c.1001A>T; p.Q334L; 18:51065468-51065468 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1517T>C; p.V506A; 18:51078325-51078325 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1334G>A; p.R445Q; 18:51076663-51076663 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.978delT; p.I326fs*10; 18:51065445-51065445 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.970T>C; p.C324R; 18:51065437-51065437 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.431C>A; p.S144*; 18:51049301-51049301 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.733C>T; p.Q245*; 18:51058190-51058190 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.733C>T; p.Q245*; 18:51058190-51058190 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.733C>T; p.Q245*; 18:51058190-51058190 |
breast | carcinoma | Substitution - Nonsense |
c.194G>A; p.G65E; 18:51047240-51047240 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1284G>C; p.K428N; 18:51067163-51067163 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.733C>T; p.Q245*; 18:51058190-51058190 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Nonsense |
c.733C>T; p.Q245*; 18:51058190-51058190 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.115G>A; p.A39T; 18:51047161-51047161 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1051G>A; p.D351N; 18:51065518-51065518 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733C>T; p.Q245*; 18:51058190-51058190 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.733C>T; p.Q245*; 18:51058190-51058190 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.115G>A; p.A39T; 18:51047161-51047161 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733C>T; p.Q245*; 18:51058190-51058190 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1051G>T; p.D351Y; 18:51065518-51065518 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.43G>A; p.A15T; 18:51047089-51047089 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.966T>G; p.Y322*; 18:51065433-51065433 |
pancreas | carcinoma | Substitution - Nonsense |
c.1051G>T; p.D351Y; 18:51065518-51065518 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.643C>T; p.P215S; 18:51054969-51054969 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1473T>G; p.G491G; 18:51078281-51078281 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1351_1375del25; p.A451fs*17; 18:51076680-51076704 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.344G>A; p.C115Y; 18:51048780-51048780 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1322G>C; p.R441P; 18:51076651-51076651 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.776_777delCT; p.T259fs*4; 18:51058233-51058234 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.405A>G; p.R135R; 18:51048841-51048841 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.523G>C; p.E175Q; 18:51054849-51054849 |
pancreas | carcinoma | Substitution - Missense |
c.776_777delCT; p.T259fs*4; 18:51058233-51058234 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.424+1G>A; p.?; 18:51048861-51048861 |
pancreas | carcinoma | Unknown |
c.405A>G; p.R135R; 18:51048841-51048841 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1051G>C; p.D351H; 18:51065518-51065518 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1051G>C; p.D351H; 18:51065518-51065518 |
ovary | carcinoma | Substitution - Missense |
c.1051G>C; p.D351H; 18:51065518-51065518 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.425-26T>C; p.?; 18:51049269-51049269 |
thyroid | other; hyperplasia | Unknown |
c.737C>G; p.P246R; 18:51058194-51058194 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.128T>C; p.L43S; 18:51047174-51047174 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1051G>C; p.D351H; 18:51065518-51065518 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1011G>A; p.E337E; 18:51065478-51065478 |
pancreas | other; dysplasia-in_situ_neoplasm | Substitution - coding silent |
c.1051G>C; p.D351H; 18:51065518-51065518 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1051G>C; p.D351H; 18:51065518-51065518 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1051G>C; p.D351H; 18:51065518-51065518 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1051G>C; p.D351H; 18:51065518-51065518 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1051G>C; p.D351H; 18:51065518-51065518 |
pancreas | carcinoma | Substitution - Missense |
c.128T>C; p.L43S; 18:51047174-51047174 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1051G>C; p.D351H; 18:51065518-51065518 |
ovary | carcinoma | Substitution - Missense |
c.1051G>C; p.D351H; 18:51065518-51065518 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1051G>C; p.D351H; 18:51065518-51065518 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1222T>C; p.F408L; 18:51067101-51067101 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1051G>C; p.D351H; 18:51065518-51065518 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1607T>A; p.L536Q; 18:51078415-51078415 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1529G>A; p.G510E; 18:51078337-51078337 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.343T>C; p.C115R; 18:51048779-51048779 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1607T>A; p.L536Q; 18:51078415-51078415 |
pancreas | carcinoma | Substitution - Missense |
c.1529G>A; p.G510E; 18:51078337-51078337 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1590C>T; p.H530H; 18:51078398-51078398 |
skin | malignant_melanoma | Substitution - coding silent |
c.1063G>T; p.D355Y; 18:51065530-51065530 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.21G>A; p.T7T; 18:51047067-51047067 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.170T>A; p.L57*; 18:51047216-51047216 |
gastrointestinal_tract_(site_indeterminate) | other; juvenile_polyp | Substitution - Nonsense |
c.1320_1377del58; p.R441fs*16; 18:51076649-51076706 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.116C>G; p.A39G; 18:51047162-51047162 |
pancreas | carcinoma | Substitution - Missense |
c.956-1G>A; p.?; 18:51065422-51065422 |
pancreas | NS | Unknown |
c.1610A>T; p.D537V; 18:51078418-51078418 |
pancreas | carcinoma | Substitution - Missense |
c.1147A>G; p.I383V; 18:51067026-51067026 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1610A>T; p.D537V; 18:51078418-51078418 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.687delG; p.G231fs*10; 18:51058144-51058144 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1063G>A; p.D355N; 18:51065530-51065530 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.1610A>T; p.D537V; 18:51078418-51078418 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.1069T>C; p.S357P; 18:51065536-51065536 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.514T>A; p.L172M; 18:51054840-51054840 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1027T>C; p.S343P; 18:51065494-51065494 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.780C>A; p.Y260*; 18:51058237-51058237 |
pancreas | carcinoma | Substitution - Nonsense |
c.377T>C; p.V126A; 18:51048813-51048813 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.377T>C; p.V126A; 18:51048813-51048813 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1144C>G; p.H382D; 18:51067023-51067023 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1557A>C; p.K519N; 18:51078365-51078365 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1027T>C; p.S343P; 18:51065494-51065494 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1657T>C; p.*553R; 18:51078465-51078465 |
pancreas | carcinoma | Nonstop extension |
c.1002G>T; p.Q334H; 18:51065469-51065469 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.271C>T; p.P91S; 18:51048707-51048707 |
skin | malignant_melanoma | Substitution - Missense |
c.955+5G>C; p.?; 18:51059921-51059921 |
large_intestine | carcinoma; adenocarcinoma | Unknown |
c.1052A>T; p.D351V; 18:51065519-51065519 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.955+5G>C; p.?; 18:51059921-51059921 |
large_intestine | carcinoma; adenocarcinoma | Unknown |
c.955+5G>C; p.?; 18:51059921-51059921 |
large_intestine | carcinoma; adenocarcinoma | Unknown |
c.950A>G; p.H317R; 18:51059911-51059911 |
ovary | low_malignant_potential_(borderline)_tumour; mucinous | Substitution - Missense |
c.1454C>A; p.S485*; 18:51078262-51078262 |
pancreas | carcinoma | Substitution - Nonsense |
c.161T>C; p.L54S; 18:51047207-51047207 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1068T>C; p.P356P; 18:51065535-51065535 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1544G>C; p.R515T; 18:51078352-51078352 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1597C>T; p.L533F; 18:51078405-51078405 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.431C>T; p.S144L; 18:51049301-51049301 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.431C>T; p.S144L; 18:51049301-51049301 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.431C>T; p.S144L; 18:51049301-51049301 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.431C>T; p.S144L; 18:51049301-51049301 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1595C>T; p.A532V; 18:51078403-51078403 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1224T>A; p.F408L; 18:51067103-51067103 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.296G>A; p.W99*; 18:51048732-51048732 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.788A>G; p.N263S; 18:51058340-51058340 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.298A>T; p.R100W; 18:51048734-51048734 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.788A>G; p.N263S; 18:51058340-51058340 |
thyroid | carcinoma; papillary_carcinoma | Substitution - Missense |
c.383_384insA; p.N129fs*14; 18:51048819-51048820 |
pancreas | carcinoma | Insertion - Frameshift |
c.683_684insT; p.L229fs*6; 18:51058140-51058141 |
pancreas | other; pancreatoblastoma | Insertion - Frameshift |
c.1049_1051TTG>ATA; p.V350_D351>DN; 18:51065516-51065518 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Complex - compound substitution |
c.296G>A; p.W99*; 18:51048732-51048732 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1087T>C; p.C363R; 18:51065554-51065554 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.298A>T; p.R100W; 18:51048734-51048734 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1519A>G; p.K507E; 18:51078327-51078327 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1577A>T; p.E526V; 18:51078385-51078385 |
pancreas | carcinoma | Substitution - Missense |
c.1519A>G; p.K507E; 18:51078327-51078327 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1519A>G; p.K507E; 18:51078327-51078327 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1519A>G; p.K507E; 18:51078327-51078327 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1577A>T; p.E526V; 18:51078385-51078385 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.209A>C; p.K70T; 18:51047255-51047255 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1519A>G; p.K507E; 18:51078327-51078327 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1519A>G; p.K507E; 18:51078327-51078327 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1028_1029insTC; p.S344fs*41; 18:51065495-51065496 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.1543A>T; p.R515*; 18:51078351-51078351 |
pancreas | carcinoid-endocrine_tumour; non_functioning | Substitution - Nonsense |
c.89_90delGA; p.S32fs*1; 18:51047135-51047136 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.907_908insC; p.V304fs*4; 18:51059868-51059869 |
thyroid | carcinoma; papillary_carcinoma | Insertion - Frameshift |
c.1543A>T; p.R515*; 18:51078351-51078351 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.389C>T; p.P130L; 18:51048825-51048825 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.89_90delGA; p.S32fs*1; 18:51047135-51047136 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.389C>T; p.P130L; 18:51048825-51048825 |
pancreas | carcinoma | Substitution - Missense |
c.389C>T; p.P130L; 18:51048825-51048825 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.454+2T>A; p.?; 18:51049326-51049326 |
pancreas | carcinoma | Unknown |
c.1543A>T; p.R515*; 18:51078351-51078351 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.1088G>A; p.C363Y; 18:51065555-51065555 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.135G>T; p.K45N; 18:51047181-51047181 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1088G>A; p.C363Y; 18:51065555-51065555 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.400G>A; p.E134K; 18:51048836-51048836 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1088G>A; p.C363Y; 18:51065555-51065555 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1480G>T; p.D494Y; 18:51078288-51078288 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1088G>A; p.C363Y; 18:51065555-51065555 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1480G>T; p.D494Y; 18:51078288-51078288 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1480G>T; p.D494Y; 18:51078288-51078288 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.904T>C; p.W302R; 18:51058456-51058456 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.400G>A; p.E134K; 18:51048836-51048836 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1477G>A; p.D493N; 18:51078285-51078285 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1000C>T; p.Q334*; 18:51065467-51065467 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.1477G>A; p.D493N; 18:51078285-51078285 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1010A>G; p.E337G; 18:51065477-51065477 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1477G>A; p.D493N; 18:51078285-51078285 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.678C>T; p.A226A; 18:51058135-51058135 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.129G>T; p.L43F; 18:51047175-51047175 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010A>G; p.E337G; 18:51065477-51065477 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010A>G; p.E337G; 18:51065477-51065477 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1226_1239del14; p.Q410fs*14; 18:51067105-51067118 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1010A>G; p.E337G; 18:51065477-51065477 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>A; p.R361S; 18:51065548-51065548 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>A; p.R361S; 18:51065548-51065548 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1477G>A; p.D493N; 18:51078285-51078285 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010A>G; p.E337G; 18:51065477-51065477 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.129G>T; p.L43F; 18:51047175-51047175 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010A>G; p.E337G; 18:51065477-51065477 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.491A>G; p.H164R; 18:51054817-51054817 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.533C>A; p.S178*; 18:51054859-51054859 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1028C>A; p.S343*; 18:51065495-51065495 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1607_1626del20; p.L536fs*11; 18:51078415-51078434 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1096C>T; p.Q366*; 18:51065563-51065563 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.1517T>A; p.V506E; 18:51078325-51078325 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1096C>T; p.Q366*; 18:51065563-51065563 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.533C>A; p.S178*; 18:51054859-51054859 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1096C>T; p.Q366*; 18:51065563-51065563 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.1616T>G; p.V539G; 18:51078424-51078424 |
pancreas | other; chronic_pancreatitis | Substitution - Missense |
c.988G>A; p.E330K; 18:51065455-51065455 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.988G>A; p.E330K; 18:51065455-51065455 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.988G>A; p.E330K; 18:51065455-51065455 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.1484T>G; p.L495R; 18:51078292-51078292 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.227G>T; p.R76I; 18:51047273-51047273 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.988G>A; p.E330K; 18:51065455-51065455 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.988G>A; p.E330K; 18:51065455-51065455 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.988G>A; p.E330K; 18:51065455-51065455 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.318_319insA; p.N107fs*2; 18:51048754-51048755 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.1319T>A; p.L440*; 18:51076648-51076648 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1545A>G; p.R515R; 18:51078353-51078353 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1148T>A; p.I383K; 18:51067027-51067027 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1545A>G; p.R515R; 18:51078353-51078353 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1545A>G; p.R515R; 18:51078353-51078353 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1545A>G; p.R515R; 18:51078353-51078353 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1591C>A; p.R531R; 18:51078399-51078399 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1591C>A; p.R531R; 18:51078399-51078399 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1591C>A; p.R531R; 18:51078399-51078399 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1591C>A; p.R531R; 18:51078399-51078399 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1591C>A; p.R531R; 18:51078399-51078399 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.395A>G; p.H132R; 18:51048831-51048831 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.395A>G; p.H132R; 18:51048831-51048831 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1006G>A; p.G336R; 18:51065473-51065473 |
pancreas | carcinoma | Substitution - Missense |
c.535A>T; p.I179F; 18:51054861-51054861 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.290G>A; p.R97H; 18:51048726-51048726 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1271A>T; p.D424V; 18:51067150-51067150 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.930C>G; p.F310L; 18:51059891-51059891 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.290G>A; p.R97H; 18:51048726-51048726 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1540C>T; p.P514S; 18:51078348-51078348 |
skin | malignant_melanoma | Substitution - Missense |
c.1659+12G>A; p.?; 18:51078479-51078479 |
oesophagus | carcinoma; squamous_cell_carcinoma | Unknown |
c.1140-2A>T; p.?; 18:51067017-51067017 |
pancreas | carcinoma | Unknown |
c.290G>A; p.R97H; 18:51048726-51048726 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1123_1134del12; p.A375_R378del; 18:51065590-51065601 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.1523G>A; p.G508D; 18:51078331-51078331 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1523G>A; p.G508D; 18:51078331-51078331 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.725C>G; p.S242*; 18:51058182-51058182 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.1308G>T; p.K436N; 18:51067187-51067187 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.725C>G; p.S242*; 18:51058182-51058182 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1446_1447insAATA; p.I482fs*12; 18:51076775-51076776 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.121G>A; p.E41K; 18:51047167-51047167 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1298C>T; p.A433V; 18:51067177-51067177 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1473T>C; p.G491G; 18:51078281-51078281 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1659+26C>A; p.?; 18:51078493-51078493 |
thyroid | adenoma-nodule-goitre | Unknown |
c.1473T>C; p.G491G; 18:51078281-51078281 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1067C>G; p.P356R; 18:51065534-51065534 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1067C>G; p.P356R; 18:51065534-51065534 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1528G>A; p.G510R; 18:51078336-51078336 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1478A>C; p.D493A; 18:51078286-51078286 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1067C>G; p.P356R; 18:51065534-51065534 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1478A>C; p.D493A; 18:51078286-51078286 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1086_1088delTTG; p.C363delC; 18:51065553-51065555 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - In frame |
c.1134_1135delAG; p.R378fs*14; 18:51065601-51065602 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.127T>C; p.L43L; 18:51047173-51047173 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1370C>T; p.A457V; 18:51076699-51076699 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.821C>A; p.A274E; 18:51058373-51058373 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.305C>A; p.P102H; 18:51048741-51048741 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.299G>C; p.R100T; 18:51048735-51048735 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.326T>G; p.L109R; 18:51048762-51048762 |
breast | carcinoma | Substitution - Missense |
c.178G>C; p.A60P; 18:51047224-51047224 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.299G>C; p.R100T; 18:51048735-51048735 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1052_1054delATG; p.D351del; 18:51065519-51065521 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.1572G>T; p.W524C; 18:51078380-51078380 |
pancreas | carcinoma | Substitution - Missense |
c.299G>C; p.R100T; 18:51048735-51048735 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1572G>T; p.W524C; 18:51078380-51078380 |
pancreas | carcinoma | Substitution - Missense |
c.1572G>T; p.W524C; 18:51078380-51078380 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1333C>T; p.R445*; 18:51076662-51076662 |
pancreas | carcinoma | Substitution - Nonsense |
c.1333C>T; p.R445*; 18:51076662-51076662 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1333C>T; p.R445*; 18:51076662-51076662 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.788-1G>T; p.?; 18:51058339-51058339 |
pancreas | carcinoma; ductal_carcinoma | Unknown |
c.1333C>T; p.R445*; 18:51076662-51076662 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1333C>T; p.R445*; 18:51076662-51076662 |
pancreas | carcinoma | Substitution - Nonsense |
c.1333C>T; p.R445*; 18:51076662-51076662 |
pancreas | carcinoma | Substitution - Nonsense |
c.1103C>G; p.S368C; 18:51065570-51065570 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.125G>T; p.S42I; 18:51047171-51047171 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1333C>T; p.R445*; 18:51076662-51076662 |
pancreas | carcinoma | Substitution - Nonsense |
c.1333C>T; p.R445*; 18:51076662-51076662 |
pancreas | carcinoma | Substitution - Nonsense |
c.1333C>T; p.R445*; 18:51076662-51076662 |
small_intestine; duodenum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1659A>G; p.*553W; 18:51078467-51078467 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Nonstop extension |
c.1333C>T; p.R445*; 18:51076662-51076662 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1333C>T; p.R445*; 18:51076662-51076662 |
pancreas | carcinoma | Substitution - Nonsense |
c.1333C>T; p.R445*; 18:51076662-51076662 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1333C>T; p.R445*; 18:51076662-51076662 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.1333C>T; p.R445*; 18:51076662-51076662 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.1333C>T; p.R445*; 18:51076662-51076662 |
pancreas | carcinoma | Substitution - Nonsense |
c.1333C>T; p.R445*; 18:51076662-51076662 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1333C>T; p.R445*; 18:51076662-51076662 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.392A>G; p.Y131C; 18:51048828-51048828 |
pancreas | carcinoma | Substitution - Missense |
c.654T>C; p.P218P; 18:51054980-51054980 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1223T>C; p.F408S; 18:51067102-51067102 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1333C>T; p.R445*; 18:51076662-51076662 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.788-1G>T; p.?; 18:51058339-51058339 |
lung | carcinoma; adenocarcinoma | Unknown |
c.392A>G; p.Y131C; 18:51048828-51048828 |
pancreas | NS | Substitution - Missense |
c.1333C>T; p.R445*; 18:51076662-51076662 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1333C>T; p.R445*; 18:51076662-51076662 |
pancreas | carcinoma | Substitution - Nonsense |
c.1621C>T; p.H541Y; 18:51078429-51078429 |
prostate | carcinoma | Substitution - Missense |
c.1333C>T; p.R445*; 18:51076662-51076662 |
pancreas | carcinoma | Substitution - Nonsense |
c.1333C>T; p.R445*; 18:51076662-51076662 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1028C>G; p.S343*; 18:51065495-51065495 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.1028C>G; p.S343*; 18:51065495-51065495 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.778_779insT; p.Y260fs*4; 18:51058235-51058236 |
pancreas | NS | Insertion - Frameshift |
c.778_779insT; p.Y260fs*4; 18:51058235-51058236 |
pancreas | carcinoma | Insertion - Frameshift |
c.1074A>G; p.G358G; 18:51065541-51065541 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1028C>G; p.S343*; 18:51065495-51065495 |
pancreas | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.512C>A; p.S171*; 18:51054838-51054838 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1028C>G; p.S343*; 18:51065495-51065495 |
biliary_tract; bile_duct | carcinoma | Substitution - Nonsense |
c.1597C>G; p.L533V; 18:51078405-51078405 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1611C>G; p.D537E; 18:51078419-51078419 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.785A>G; p.H262R; 18:51058242-51058242 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.766C>T; p.Q256*; 18:51058223-51058223 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1105A>G; p.N369D; 18:51065572-51065572 |
pancreas | carcinoid-endocrine_tumour; non_functioning | Substitution - Missense |
c.766C>T; p.Q256*; 18:51058223-51058223 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.715C>T; p.Q239*; 18:51058172-51058172 |
liver | carcinoma | Substitution - Nonsense |
c.1608_1613delAGACGA; p.D537_E538delDE; 18:51078416-51078421 |
pancreas | carcinoma | Deletion - In frame |
c.1632G>T; p.P544P; 18:51078440-51078440 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.715C>T; p.Q239*; 18:51058172-51058172 |
liver | carcinoma | Substitution - Nonsense |
c.715C>T; p.Q239*; 18:51058172-51058172 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.715C>T; p.Q239*; 18:51058172-51058172 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.928T>C; p.F310L; 18:51059889-51059889 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1577A>C; p.E526A; 18:51078385-51078385 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.390A>G; p.P130P; 18:51048826-51048826 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1571G>C; p.W524S; 18:51078379-51078379 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.385A>G; p.N129D; 18:51048821-51048821 |
pancreas | carcinoma | Substitution - Missense |
c.1094G>A; p.G365D; 18:51065561-51065561 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.484_485delTA; p.Y162fs*3; 18:51054810-51054811 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.984C>A; p.Y328*; 18:51065451-51065451 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.1201T>C; p.C401R; 18:51067080-51067080 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1255G>C; p.G419R; 18:51067134-51067134 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1520A>G; p.K507R; 18:51078328-51078328 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1520A>G; p.K507R; 18:51078328-51078328 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1157G>C; p.G386A; 18:51067036-51067036 |
pancreas | carcinoma | Substitution - Missense |
c.865C>T; p.Q289*; 18:51058417-51058417 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.220_221insT; p.Q75fs*29; 18:51047266-51047267 |
liver | carcinoma | Insertion - Frameshift |
c.97G>T; p.E33*; 18:51047143-51047143 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.865C>T; p.Q289*; 18:51058417-51058417 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.97G>T; p.E33*; 18:51047143-51047143 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.884C>T; p.P295L; 18:51058436-51058436 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.944delC; p.N316fs*20; 18:51059905-51059905 |
breast | carcinoma | Deletion - Frameshift |
c.388C>T; p.P130S; 18:51048824-51048824 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1414C>A; p.P472T; 18:51076743-51076743 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1354G>A; p.A452T; 18:51076683-51076683 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1601A>C; p.Q534P; 18:51078409-51078409 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1134A>G; p.R378R; 18:51065601-51065601 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.403C>T; p.R135*; 18:51048839-51048839 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.403C>T; p.R135*; 18:51048839-51048839 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.403C>T; p.R135*; 18:51048839-51048839 |
gastrointestinal_tract_(site_indeterminate) | other; juvenile_polyp | Substitution - Nonsense |
c.403C>T; p.R135*; 18:51048839-51048839 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.403C>T; p.R135*; 18:51048839-51048839 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.403C>T; p.R135*; 18:51048839-51048839 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.403C>T; p.R135*; 18:51048839-51048839 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1477G>T; p.D493Y; 18:51078285-51078285 |
pancreas | other; pancreatoblastoma | Substitution - Missense |
c.403C>T; p.R135*; 18:51048839-51048839 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.988G>C; p.E330Q; 18:51065455-51065455 |
large_intestine; colon | adenoma | Substitution - Missense |
c.403C>T; p.R135*; 18:51048839-51048839 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.403C>T; p.R135*; 18:51048839-51048839 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.988G>C; p.E330Q; 18:51065455-51065455 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1335A>G; p.R445R; 18:51076664-51076664 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1335A>G; p.R445R; 18:51076664-51076664 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.403C>T; p.R135*; 18:51048839-51048839 |
pancreas | carcinoma | Substitution - Nonsense |
c.116C>A; p.A39E; 18:51047162-51047162 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.904+2T>C; p.?; 18:51058458-51058458 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1607_1612delTAGACG; p.L536_E538>Q; 18:51078415-51078420 |
oesophagus | carcinoma; adenocarcinoma | Complex - deletion inframe |
c.116C>A; p.A39E; 18:51047162-51047162 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.379T>A; p.C127S; 18:51048815-51048815 |
pancreas | carcinoma | Substitution - Missense |
c.1543A>G; p.R515G; 18:51078351-51078351 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1569C>G; p.C523W; 18:51078377-51078377 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1569C>G; p.C523W; 18:51078377-51078377 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1577A>G; p.E526G; 18:51078385-51078385 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1583_1586delACTT; p.L529fs*7; 18:51078391-51078394 |
pancreas | carcinoid-endocrine_tumour; non_functioning | Deletion - Frameshift |
c.1569C>G; p.C523W; 18:51078377-51078377 |
biliary_tract; bile_duct | carcinoma | Substitution - Missense |
c.951T>C; p.H317H; 18:51059912-51059912 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1612G>T; p.E538*; 18:51078420-51078420 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1612G>T; p.E538*; 18:51078420-51078420 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1599C>T; p.L533L; 18:51078407-51078407 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1612G>T; p.E538*; 18:51078420-51078420 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.387T>G; p.N129K; 18:51048823-51048823 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1612G>T; p.E538*; 18:51078420-51078420 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1308+2T>G; p.?; 18:51067189-51067189 |
large_intestine | carcinoma; adenocarcinoma | Unknown |
c.131T>G; p.V44G; 18:51047177-51047177 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1052A>G; p.D351G; 18:51065519-51065519 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1052A>G; p.D351G; 18:51065519-51065519 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1052A>G; p.D351G; 18:51065519-51065519 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1228_1229insCA; p.Q410fs*6; 18:51067107-51067108 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.131T>G; p.V44G; 18:51047177-51047177 |
pancreas | carcinoma | Substitution - Missense |
c.1546C>T; p.Q516*; 18:51078354-51078354 |
large_intestine; rectum | other; ulcerative_colitis | Substitution - Nonsense |
c.1052A>G; p.D351G; 18:51065519-51065519 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1592delG; p.A532fs*5; 18:51078400-51078400 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1052A>G; p.D351G; 18:51065519-51065519 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1052A>G; p.D351G; 18:51065519-51065519 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1052A>G; p.D351G; 18:51065519-51065519 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.305C>T; p.P102L; 18:51048741-51048741 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.692_693insC; p.S232fs*3; 18:51058149-51058150 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.1610A>G; p.D537G; 18:51078418-51078418 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1447+1G>T; p.?; 18:51076777-51076777 |
pancreas | carcinoma | Unknown |
c.1447+1G>T; p.?; 18:51076777-51076777 |
pancreas | carcinoma | Unknown |
c.1619T>C; p.L540P; 18:51078427-51078427 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.117A>G; p.A39A; 18:51047163-51047163 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1162C>T; p.Q388*; 18:51067041-51067041 |
pancreas | carcinoma | Substitution - Nonsense |
c.366_367insA; p.C123fs*2; 18:51048802-51048803 |
pancreas | NS | Insertion - Frameshift |
c.1512T>C; p.S504S; 18:51078320-51078320 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1512T>C; p.S504S; 18:51078320-51078320 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1512T>C; p.S504S; 18:51078320-51078320 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.256G>T; p.G86C; 18:51048692-51048692 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1447+1G>A; p.?; 18:51076777-51076777 |
pancreas | carcinoma; ductal_carcinoma | Unknown |
c.1572G>C; p.W524C; 18:51078380-51078380 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1447+1G>A; p.?; 18:51076777-51076777 |
pancreas | carcinoma; ductal_carcinoma | Unknown |
c.1284G>T; p.K428N; 18:51067163-51067163 |
pancreas | carcinoma | Substitution - Missense |
c.1572G>C; p.W524C; 18:51078380-51078380 |
pancreas | carcinoma | Substitution - Missense |
c.1009G>T; p.E337*; 18:51065476-51065476 |
pancreas | carcinoma | Substitution - Nonsense |
c.283T>C; p.Y95H; 18:51048719-51048719 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.533C>G; p.S178*; 18:51054859-51054859 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.1049T>A; p.V350D; 18:51065516-51065516 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.804delG; p.W268fs*1; 18:51058356-51058356 |
pancreas | NS | Deletion - Frameshift |
c.1333C>A; p.R445R; 18:51076662-51076662 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.995A>G; p.D332G; 18:51065462-51065462 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.121G>T; p.E41*; 18:51047167-51047167 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1592G>A; p.R531Q; 18:51078400-51078400 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1592G>A; p.R531Q; 18:51078400-51078400 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1592G>A; p.R531Q; 18:51078400-51078400 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1592G>A; p.R531Q; 18:51078400-51078400 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1135G>A; p.A379T; 18:51065602-51065602 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.306T>C; p.P102P; 18:51048742-51048742 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1495T>C; p.C499R; 18:51078303-51078303 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Missense |
c.306T>C; p.P102P; 18:51048742-51048742 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.740G>A; p.G247E; 18:51058197-51058197 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.306T>C; p.P102P; 18:51048742-51048742 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.919G>T; p.E307*; 18:51059880-51059880 |
pancreas | carcinoma | Substitution - Nonsense |
c.1571G>A; p.W524*; 18:51078379-51078379 |
pancreas | carcinoma | Substitution - Nonsense |
c.565C>T; p.R189C; 18:51054891-51054891 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1495T>C; p.C499R; 18:51078303-51078303 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.432A>T; p.S144S; 18:51049302-51049302 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1508_1509insT; p.M503fs*24; 18:51078316-51078317 |
pancreas | NS | Insertion - Frameshift |
c.1217C>T; p.A406V; 18:51067096-51067096 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.432A>T; p.S144S; 18:51049302-51049302 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1217C>T; p.A406V; 18:51067096-51067096 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1648C>A; p.P550T; 18:51078456-51078456 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1148T>C; p.I383T; 18:51067027-51067027 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.432A>T; p.S144S; 18:51049302-51049302 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1323T>C; p.R441R; 18:51076652-51076652 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1082G>C; p.R361P; 18:51065549-51065549 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1323T>C; p.R441R; 18:51076652-51076652 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1323T>C; p.R441R; 18:51076652-51076652 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1297G>A; p.A433T; 18:51067176-51067176 |
biliary_tract; bile_duct | carcinoma | Substitution - Missense |
c.1323T>C; p.R441R; 18:51076652-51076652 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.354G>A; p.A118A; 18:51048790-51048790 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1487G>A; p.R496H; 18:51078295-51078295 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1609G>C; p.D537H; 18:51078417-51078417 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1609G>C; p.D537H; 18:51078417-51078417 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.389C>A; p.P130Q; 18:51048825-51048825 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.226A>G; p.R76G; 18:51047272-51047272 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1487G>A; p.R496H; 18:51078295-51078295 |
thyroid | carcinoma; papillary_carcinoma | Substitution - Missense |
c.1487G>A; p.R496H; 18:51078295-51078295 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1487G>A; p.R496H; 18:51078295-51078295 |
pancreas | carcinoma | Substitution - Missense |
c.1609G>C; p.D537H; 18:51078417-51078417 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.404G>A; p.R135Q; 18:51048840-51048840 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.346C>T; p.Q116*; 18:51048782-51048782 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1259G>A; p.R420H; 18:51067138-51067138 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1084_1085ins37; p.F362fs*2; 18:51065551-51065552 |
stomach | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.346C>T; p.Q116*; 18:51048782-51048782 |
pancreas | carcinoma | Substitution - Nonsense |
c.346C>T; p.Q116*; 18:51048782-51048782 |
pancreas | NS | Substitution - Nonsense |
c.346C>T; p.Q116*; 18:51048782-51048782 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.547C>T; p.Q183*; 18:51054873-51054873 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1287C>T; p.I429I; 18:51067166-51067166 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1525T>C; p.W509R; 18:51078333-51078333 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.547C>T; p.Q183*; 18:51054873-51054873 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1158T>C; p.G386G; 18:51067037-51067037 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1525T>C; p.W509R; 18:51078333-51078333 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1525T>C; p.W509R; 18:51078333-51078333 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.972T>C; p.C324C; 18:51065439-51065439 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1248A>G; p.R416R; 18:51067127-51067127 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1156G>C; p.G386R; 18:51067035-51067035 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.292C>T; p.L98F; 18:51048728-51048728 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.972T>C; p.C324C; 18:51065439-51065439 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1156G>C; p.G386R; 18:51067035-51067035 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1156G>C; p.G386R; 18:51067035-51067035 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1156G>C; p.G386R; 18:51067035-51067035 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.972T>C; p.C324C; 18:51065439-51065439 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1248A>G; p.R416R; 18:51067127-51067127 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.283T>A; p.Y95N; 18:51048719-51048719 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1248A>G; p.R416R; 18:51067127-51067127 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1156G>C; p.G386R; 18:51067035-51067035 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.972T>C; p.C324C; 18:51065439-51065439 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1013C>A; p.T338K; 18:51065480-51065480 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.961G>A; p.E321K; 18:51065428-51065428 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.265G>T; p.G89*; 18:51048701-51048701 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.989A>C; p.E330A; 18:51065456-51065456 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.989A>C; p.E330A; 18:51065456-51065456 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>T; p.Q248*; 18:51058199-51058199 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.1057T>C; p.Y353H; 18:51065524-51065524 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1496G>A; p.C499Y; 18:51078304-51078304 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1140-2A>C; p.?; 18:51067017-51067017 |
pancreas | carcinoma | Unknown |
c.1496G>A; p.C499Y; 18:51078304-51078304 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.742C>T; p.Q248*; 18:51058199-51058199 |
pancreas | carcinoma | Substitution - Nonsense |
c.1600C>T; p.Q534*; 18:51078408-51078408 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.1496G>A; p.C499Y; 18:51078304-51078304 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1600C>T; p.Q534*; 18:51078408-51078408 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1067C>T; p.P356L; 18:51065534-51065534 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1067C>T; p.P356L; 18:51065534-51065534 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1067C>T; p.P356L; 18:51065534-51065534 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.932A>G; p.Q311R; 18:51059893-51059893 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1477G>C; p.D493H; 18:51078285-51078285 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1067C>T; p.P356L; 18:51065534-51065534 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1067C>T; p.P356L; 18:51065534-51065534 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1659A>C; p.*553C; 18:51078467-51078467 |
large_intestine; caecum | carcinoma; adenocarcinoma | Nonstop extension |
c.1067C>T; p.P356L; 18:51065534-51065534 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1067C>T; p.P356L; 18:51065534-51065534 |
large_intestine; appendix | carcinoma; adenocarcinoma | Substitution - Missense |
c.1555delA; p.E520fs*17; 18:51078363-51078363 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.425-9A>G; p.?; 18:51049286-51049286 |
large_intestine | carcinoma; adenocarcinoma | Unknown |
c.1224T>C; p.F408F; 18:51067103-51067103 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1081C>T; p.R361C; 18:51065548-51065548 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
pancreas | carcinoma | Substitution - Missense |
c.1107_1112delTGTCCA; p.V370_H371del; 18:51065574-51065579 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.1310T>A; p.V437D; 18:51076639-51076639 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
small_intestine; jejunum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
small_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
small_intestine; duodenum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
pancreas; ampulla_of_Vater | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
small_intestine; duodenum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
small_intestine; duodenum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
pancreas | carcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
pancreas | carcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1081C>T; p.R361C; 18:51065548-51065548 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.942T>C; p.I314I; 18:51059903-51059903 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1168G>T; p.E390*; 18:51067047-51067047 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.905-1G>T; p.?; 18:51059865-51059865 |
large_intestine | carcinoma; adenocarcinoma | Unknown |
c.1510A>G; p.S504G; 18:51078318-51078318 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1058A>G; p.Y353C; 18:51065525-51065525 |
small_intestine; duodenum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1510A>G; p.S504G; 18:51078318-51078318 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1058A>G; p.Y353C; 18:51065525-51065525 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1570T>C; p.W524R; 18:51078378-51078378 |
pancreas | carcinoma | Substitution - Missense |
c.1258C>A; p.R420S; 18:51067137-51067137 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |