General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 140690 |
Name | CTCFL |
Synonymous | CCCTC-binding factor (zinc finger protein)-like;CTCFL;CCCTC-binding factor (zinc finger protein)-like |
Definition | BORIS-like protein|CTCF paralog|CTCF-like protein|HMG-1L1|brother of the regulator of imprinted sites|cancer/testis antigen 27|putative high mobility group protein 1-like 1|putative high mobility group protein B1-like 1|transcriptional repressor CTCFL|zin |
Position | 20q13.31 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.15. |
The copy number variations for various cancers | Top |
The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
---|---|---|---|
c.1570C>T; p.R524*; 20:57508710-57508710 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.121C>A; p.H41N; 20:57524085-57524085 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1800G>A; p.K600K; 20:57503476-57503476 |
skin | malignant_melanoma | Substitution - coding silent |
c.1472G>A; p.C491Y; 20:57512611-57512611 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1054G>T; p.V352L; 20:57518763-57518763 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1069T>C; p.L357L; 20:57515825-57515825 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.942G>A; p.K314K; 20:57518875-57518875 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.671T>A; p.V224E; 20:57523151-57523151 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.97G>T; p.D33Y; 20:57524109-57524109 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.822T>C; p.R274R; 20:57519310-57519310 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.822T>C; p.R274R; 20:57519310-57519310 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.764G>A; p.G255E; 20:57519368-57519368 |
skin | malignant_melanoma | Substitution - Missense |
c.1316G>A; p.R439Q; 20:57514606-57514606 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.706G>A; p.A236T; 20:57523116-57523116 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.135T>G; p.S45R; 20:57524071-57524071 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.949G>A; p.D317N; 20:57518868-57518868 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.949G>A; p.D317N; 20:57518868-57518868 |
skin; back | malignant_melanoma | Substitution - Missense |
c.949G>A; p.D317N; 20:57518868-57518868 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.640G>A; p.E214K; 20:57523182-57523182 |
skin | malignant_melanoma | Substitution - Missense |
c.1344C>G; p.R448R; 20:57512739-57512739 |
breast | carcinoma | Substitution - coding silent |
c.1084C>A; p.R362R; 20:57515810-57515810 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.219G>T; p.E73D; 20:57523987-57523987 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.322G>A; p.V108M; 20:57523884-57523884 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1835G>A; p.G612E; 20:57503441-57503441 |
skin | malignant_melanoma | Substitution - Missense |
c.1097G>A; p.G366E; 20:57515797-57515797 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.916A>G; p.T306A; 20:57519216-57519216 |
NS | NS | Substitution - Missense |
c.988C>T; p.R330*; 20:57518829-57518829 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.335T>A; p.V112E; 20:57523871-57523871 |
breast | carcinoma | Substitution - Missense |
c.1304C>T; p.T435I; 20:57514618-57514618 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1516C>T; p.R506C; 20:57508764-57508764 |
skin | malignant_melanoma | Substitution - Missense |
c.1871A>T; p.K624M; 20:57498671-57498671 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1267G>A; p.E423K; 20:57514655-57514655 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1267G>A; p.E423K; 20:57514655-57514655 |
skin | malignant_melanoma | Substitution - Missense |
c.1267G>A; p.E423K; 20:57514655-57514655 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1267G>A; p.E423K; 20:57514655-57514655 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1143T>G; p.D381E; 20:57515751-57515751 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.145G>T; p.A49S; 20:57524061-57524061 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1533G>C; p.E511D; 20:57508747-57508747 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1339A>G; p.M447V; 20:57512744-57512744 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1071G>C; p.L357F; 20:57515823-57515823 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1343G>A; p.R448H; 20:57512740-57512740 |
ovary | other; neoplasm | Substitution - Missense |
c.1313C>T; p.A438V; 20:57514609-57514609 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.69G>A; p.P23P; 20:57524137-57524137 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.873G>A; p.L291L; 20:57519259-57519259 |
skin | malignant_melanoma | Substitution - coding silent |
c.1936G>C; p.E646Q; 20:57498606-57498606 |
breast | carcinoma | Substitution - Missense |
c.1936G>C; p.E646Q; 20:57498606-57498606 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.564G>A; p.K188K; 20:57523258-57523258 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.998G>A; p.R333H; 20:57518819-57518819 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.738_739insA; p.Q247fs*14; 20:57523083-57523084 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.300G>A; p.L100L; 20:57523906-57523906 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.216G>C; p.S72S; 20:57523990-57523990 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1723T>C; p.S575P; 20:57503553-57503553 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1237A>G; p.M413V; 20:57514685-57514685 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.646G>C; p.V216L; 20:57523176-57523176 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1573C>G; p.Q525E; 20:57508707-57508707 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.75delA; p.G26fs*2; 20:57524131-57524131 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.75delA; p.G26fs*2; 20:57524131-57524131 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.75delA; p.G26fs*2; 20:57524131-57524131 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Deletion - Frameshift |
c.96delA; p.D33fs*48; 20:57524110-57524110 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.173A>G; p.D58G; 20:57524033-57524033 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.173A>G; p.D58G; 20:57524033-57524033 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1805C>T; p.A602V; 20:57503471-57503471 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.1612G>A; p.D538N; 20:57508668-57508668 |
skin | malignant_melanoma | Substitution - Missense |
c.1113G>C; p.Q371H; 20:57515781-57515781 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.173A>G; p.D58G; 20:57524033-57524033 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1144A>C; p.T382P; 20:57515750-57515750 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.320_332del13; p.V108fs*45; 20:57523874-57523886 |
kidney | carcinoma; renal_cell_carcinoma | Deletion - Frameshift |
c.403G>A; p.A135T; 20:57523803-57523803 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1972C>A; p.L658I; 20:57498570-57498570 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.251C>T; p.T84M; 20:57523955-57523955 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.227A>T; p.E76V; 20:57523979-57523979 |
breast | carcinoma | Substitution - Missense |
c.139T>C; p.L47L; 20:57524067-57524067 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.212C>T; p.P71L; 20:57523994-57523994 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.174C>A; p.D58E; 20:57524032-57524032 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.169C>T; p.Q57*; 20:57524037-57524037 |
large_intestine; colon | carcinoma | Substitution - Nonsense |
c.169C>T; p.Q57*; 20:57524037-57524037 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.152G>A; p.R51H; 20:57524054-57524054 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.415C>A; p.Q139K; 20:57523791-57523791 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1840G>A; p.E614K; 20:57503436-57503436 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1840G>A; p.E614K; 20:57503436-57503436 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.1247A>G; p.H416R; 20:57514675-57514675 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1124G>A; p.C375Y; 20:57515770-57515770 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1034C>T; p.S345F; 20:57518783-57518783 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.1628C>T; p.P543L; 20:57508652-57508652 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1359C>A; p.Y453*; 20:57512724-57512724 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.725A>C; p.K242T; 20:57523097-57523097 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.93A>T; p.E31D; 20:57524113-57524113 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1173G>A; p.T391T; 20:57515721-57515721 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.820C>T; p.R274C; 20:57519312-57519312 |
skin | malignant_melanoma | Substitution - Missense |
c.820C>T; p.R274C; 20:57519312-57519312 |
skin | malignant_melanoma | Substitution - Missense |
c.1173G>A; p.T391T; 20:57515721-57515721 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.767C>T; p.T256I; 20:57519365-57519365 |
skin | malignant_melanoma | Substitution - Missense |
c.692C>T; p.P231L; 20:57523130-57523130 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1676T>A; p.I559N; 20:57503600-57503600 |
skin | malignant_melanoma | Substitution - Missense |
c.1529G>C; p.G510A; 20:57508751-57508751 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.148G>A; p.E50K; 20:57524058-57524058 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1959C>A; p.T653T; 20:57498583-57498583 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1953C>T; p.G651G; 20:57498589-57498589 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1542C>T; p.F514F; 20:57508738-57508738 |
skin | malignant_melanoma | Substitution - coding silent |
c.1840G>T; p.E614*; 20:57503436-57503436 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1141G>C; p.D381H; 20:57515753-57515753 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1758G>A; p.K586K; 20:57503518-57503518 |
skin | malignant_melanoma | Substitution - coding silent |
c.529A>G; p.T177A; 20:57523677-57523677 |
thyroid | other; neoplasm | Substitution - Missense |
c.40A>G; p.T14A; 20:57524166-57524166 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.901C>T; p.R301W; 20:57519231-57519231 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.901C>T; p.R301W; 20:57519231-57519231 |
breast | carcinoma | Substitution - Missense |
c.1408C>T; p.R470C; 20:57512675-57512675 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.140T>G; p.L47W; 20:57524066-57524066 |
skin | malignant_melanoma | Substitution - Missense |
c.168C>T; p.F56F; 20:57524038-57524038 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1408C>T; p.R470C; 20:57512675-57512675 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.754+1G>A; p.?; 20:57523067-57523067 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.762A>C; p.K254N; 20:57519370-57519370 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1772T>C; p.I591T; 20:57503504-57503504 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.379C>T; p.R127W; 20:57523827-57523827 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1409G>C; p.R470P; 20:57512674-57512674 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.525A>T; p.E175D; 20:57523681-57523681 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1694C>T; p.S565L; 20:57503582-57503582 |
skin | malignant_melanoma | Substitution - Missense |
c.1792G>A; p.G598S; 20:57503484-57503484 |
skin | malignant_melanoma | Substitution - Missense |
c.1822G>A; p.E608K; 20:57503454-57503454 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.397T>C; p.C133R; 20:57523809-57523809 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1822G>A; p.E608K; 20:57503454-57503454 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.81G>A; p.L27L; 20:57524125-57524125 |
breast | carcinoma | Substitution - coding silent |
c.1075C>T; p.R359C; 20:57515819-57515819 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1323C>T; p.S441S; 20:57514599-57514599 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1015G>A; p.E339K; 20:57518802-57518802 |
skin | malignant_melanoma | Substitution - Missense |
c.569A>C; p.Q190P; 20:57523253-57523253 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1216C>T; p.R406C; 20:57514706-57514706 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.697G>A; p.A233T; 20:57523125-57523125 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1479T>A; p.Y493*; 20:57512604-57512604 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.763G>T; p.G255*; 20:57519369-57519369 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1216C>T; p.R406C; 20:57514706-57514706 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.310C>T; p.Q104*; 20:57523896-57523896 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1230C>T; p.S410S; 20:57514692-57514692 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1230C>T; p.S410S; 20:57514692-57514692 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1833C>T; p.N611N; 20:57503443-57503443 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1230C>T; p.S410S; 20:57514692-57514692 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.266C>T; p.S89F; 20:57523940-57523940 |
skin | malignant_melanoma | Substitution - Missense |
c.728C>G; p.S243C; 20:57523094-57523094 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.52G>T; p.E18*; 20:57524154-57524154 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1263C>T; p.H421H; 20:57514659-57514659 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.320G>T; p.G107V; 20:57523886-57523886 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.888G>A; p.T296T; 20:57519244-57519244 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.990A>T; p.R330R; 20:57518827-57518827 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1329A>G; p.L443L; 20:57514593-57514593 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1227G>C; p.Q409H; 20:57514695-57514695 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.642A>C; p.E214D; 20:57523180-57523180 |
liver | carcinoma | Substitution - Missense |
c.1706G>A; p.G569E; 20:57503570-57503570 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.357G>T; p.L119F; 20:57523849-57523849 |
breast | carcinoma | Substitution - Missense |
c.1076G>A; p.R359H; 20:57515818-57515818 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1143T>C; p.D381D; 20:57515751-57515751 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.148G>C; p.E50Q; 20:57524058-57524058 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.148G>C; p.E50Q; 20:57524058-57524058 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.83A>G; p.K28R; 20:57524123-57524123 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.178G>A; p.V60I; 20:57524028-57524028 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.178G>A; p.V60I; 20:57524028-57524028 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.690delA; p.Q230fs*47; 20:57523132-57523132 |
bone; ilium | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Deletion - Frameshift |
c.67C>T; p.P23S; 20:57524139-57524139 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.225C>T; p.S75S; 20:57523981-57523981 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.67C>T; p.P23S; 20:57524139-57524139 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.789G>A; p.M263I; 20:57519343-57519343 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1495C>T; p.R499C; 20:57508785-57508785 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1405G>A; p.E469K; 20:57512678-57512678 |
skin | malignant_melanoma | Substitution - Missense |
c.1830G>A; p.A610A; 20:57503446-57503446 |
skin | malignant_melanoma | Substitution - coding silent |
c.592G>A; p.E198K; 20:57523230-57523230 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.755G>A; p.G252E; 20:57519377-57519377 |
skin | malignant_melanoma | Substitution - Missense |
c.384G>A; p.Q128Q; 20:57523822-57523822 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1828G>A; p.A610T; 20:57503448-57503448 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.391C>A; p.Q131K; 20:57523815-57523815 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.31G>T; p.E11*; 20:57524175-57524175 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.319G>A; p.G107R; 20:57523887-57523887 |
breast | carcinoma | Substitution - Missense |
c.1517G>A; p.R506H; 20:57508763-57508763 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.984C>A; p.L328L; 20:57518833-57518833 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.112G>C; p.E38Q; 20:57524094-57524094 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.690A>G; p.Q230Q; 20:57523132-57523132 |
skin | malignant_melanoma | Substitution - coding silent |
c.1317G>C; p.R439R; 20:57514605-57514605 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1180G>T; p.G394C; 20:57515714-57515714 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1084C>T; p.R362*; 20:57515810-57515810 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1084C>T; p.R362*; 20:57515810-57515810 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1627C>T; p.P543S; 20:57508653-57508653 |
skin | malignant_melanoma | Substitution - Missense |
c.1618A>G; p.N540D; 20:57508662-57508662 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1084C>T; p.R362*; 20:57515810-57515810 |
skin | malignant_melanoma | Substitution - Nonsense |
c.600C>A; p.L200L; 20:57523222-57523222 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1103G>A; p.R368H; 20:57515791-57515791 |
liver | carcinoma | Substitution - Missense |
c.1103G>A; p.R368H; 20:57515791-57515791 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.855C>T; p.H285H; 20:57519277-57519277 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.344_345delCT; p.P115fs*8; 20:57523861-57523862 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.215C>T; p.S72L; 20:57523991-57523991 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |