Entrez Gene

Basic Information
Gene ID	999
Name	CDH1
Synonymous	cadherin 1, type 1, E-cadherin (epithelial);CDH1;cadherin 1, type 1, E-cadherin (epithelial)
Definition	CAM 120/80\|E-Cadherin\|cadherin 1, E-cadherin (epithelial)\|cadherin-1\|calcium-dependent adhesion protein, epithelial\|cell-CAM 120/80\|epithelial cadherin\|uvomorulin
Position	16q22.1
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

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.49.

The copy number variations for various cancers

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

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.563T>A; p.V188D; 16:68808724-68808724	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.563T>A; p.V188D; 16:68808724-68808724	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1528G>A; p.A510T; 16:68815722-68815722	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.569A>G; p.Y190C; 16:68808730-68808730	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.357_358insG; p.H121fs*47; 16:68801863-68801864	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.1009-2_1029del23; p.?; 16:68812133-68812155	breast	carcinoma; lobular_carcinoma	Unknown
c.394G>A; p.V132I; 16:68808430-68808430	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.846G>A; p.M282I; 16:68811697-68811697	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.662A>T; p.D221V; 16:68808823-68808823	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1157A>G; p.E386G; 16:68813332-68813332	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1156G>A; p.E386K; 16:68813331-68813331	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1009-2_1029del23; p.?; 16:68812133-68812155	breast	carcinoma; lobular_carcinoma	Unknown
c.1817A>T; p.N606I; 16:68822106-68822106	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1215_1216insNNNNN; p.T406fs*13; 16:68813390-68813391	stomach	carcinoma; diffuse_adenocarcinoma	Insertion - Frameshift
c.499_500insCCC; p.E167>AQ; 16:68808535-68808536	breast	carcinoma	Complex - insertion inframe
c.539C>T; p.S180F; 16:68808700-68808700	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1183A>G; p.T395A; 16:68813358-68813358	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.1785_1810del26; p.P597fs*11; 16:68822074-68822099	breast	carcinoma	Deletion - Frameshift
c.172G>T; p.E58*; 16:68801678-68801678	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Nonsense
c.946A>G; p.M316V; 16:68811797-68811797	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1829A>T; p.Q610L; 16:68822118-68822118	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1930G>A; p.D644N; 16:68822219-68822219	breast	carcinoma	Substitution - Missense
c.752C>A; p.T251K; 16:68810261-68810261	breast	carcinoma	Substitution - Missense
c.1205A>G; p.D402G; 16:68813380-68813380	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2386C>T; p.R796W; 16:68829744-68829744	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.523_531+17del26; p.?; 16:68808559-68808584	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.1008G>A; p.E336E; 16:68811859-68811859	breast	carcinoma	Substitution - coding silent
c.1008G>A; p.E336E; 16:68811859-68811859	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1109A>C; p.D370A; 16:68812235-68812235	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1008G>A; p.E336E; 16:68811859-68811859	stomach	carcinoma; signet_ring_adenocarcinoma	Substitution - coding silent
c.1534G>T; p.E512*; 16:68815728-68815728	breast	carcinoma	Substitution - Nonsense
c.2440-1G>C; p.?; 16:68833289-68833289	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2252A>G; p.N751S; 16:68828261-68828261	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2440-1G>C; p.?; 16:68833289-68833289	breast	carcinoma; ductal_carcinoma	Unknown
c.1019C>G; p.T340R; 16:68812145-68812145	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1394C>A; p.S465Y; 16:68815588-68815588	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1014delC; p.P339fs*17; 16:68812140-68812140	breast	carcinoma	Deletion - Frameshift
c.1320+5G>A; p.?; 16:68813500-68813500	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.832G>T; p.G278*; 16:68810341-68810341	breast	carcinoma	Substitution - Nonsense
c.985G>T; p.V329F; 16:68811836-68811836	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.304G>A; p.A102T; 16:68801810-68801810	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.847_861del15; p.E283_T287delEVTAT; 16:68811698-68811712	breast	carcinoma	Deletion - In frame
c.1778delC; p.I594fs*19; 16:68822067-68822067	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.1224delG; p.W409fs*8; 16:68813399-68813399	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.670C>T; p.R224C; 16:68808831-68808831	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1711delG; p.G571fs*13; 16:68819425-68819425	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.670C>T; p.R224C; 16:68808831-68808831	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1118C>G; p.P373R; 16:68812244-68812244	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1966_1987del22; p.M656fs*16; 16:68823428-68823449	breast	carcinoma; ER-PR-positive_carcinoma	Deletion - Frameshift
c.1594T>C; p.W532R; 16:68819308-68819308	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.895G>T; p.A299S; 16:68811746-68811746	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1594T>C; p.W532R; 16:68819308-68819308	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1680G>A; p.T560T; 16:68819394-68819394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.367C>T; p.H123Y; 16:68801873-68801873	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1058A>G; p.E353G; 16:68812184-68812184	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1058A>G; p.E353G; 16:68812184-68812184	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1320+26A>T; p.?; 16:68813521-68813521	stomach	carcinoma; signet_ring_adenocarcinoma	Unknown
c.1058A>G; p.E353G; 16:68812184-68812184	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1058A>G; p.E353G; 16:68812184-68812184	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1058A>G; p.E353G; 16:68812184-68812184	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.829C>T; p.P277S; 16:68810338-68810338	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1058A>G; p.E353G; 16:68812184-68812184	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1058A>G; p.E353G; 16:68812184-68812184	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1844delT; p.I615fs*16; 16:68822133-68822133	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.263C>A; p.P88H; 16:68801769-68801769	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2536A>G; p.S846G; 16:68833386-68833386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.641T>G; p.L214R; 16:68808802-68808802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.864_865delCG; p.A289fs*3; 16:68811715-68811716	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.1107C>T; p.N369N; 16:68812233-68812233	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - coding silent
c.1162G>T; p.E388*; 16:68813337-68813337	breast	carcinoma; lobular_carcinoma	Substitution - Nonsense
c.2165-1G>T; p.?; 16:68828173-68828173	breast	carcinoma	Unknown
c.387G>T; p.Q129H; 16:68801893-68801893	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1282A>G; p.N428D; 16:68813457-68813457	soft_tissue; fibrous_tissue_and_uncertain_o	synovial_sarcoma; biphasic	Substitution - Missense
c.2574C>A; p.D858E; 16:68833424-68833424	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.210C>T; p.S70S; 16:68801716-68801716	skin	malignant_melanoma	Substitution - coding silent
c.1595G>A; p.W532*; 16:68819309-68819309	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Nonsense
c.22_43del22; p.L8fs*41; 16:68737437-68737458	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.770A>G; p.D257G; 16:68810279-68810279	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.770A>G; p.D257G; 16:68810279-68810279	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Missense
c.1108G>A; p.D370N; 16:68812234-68812234	central_nervous_system; brain	glioma	Substitution - Missense
c.568T>C; p.Y190H; 16:68808729-68808729	NS	malignant_melanoma	Substitution - Missense
c.931_932insT; p.D313fs*1; 16:68811782-68811783	breast	carcinoma	Insertion - Frameshift
c.568T>C; p.Y190H; 16:68808729-68808729	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.832+1G>A; p.?; 16:68810342-68810342	breast	carcinoma	Unknown
c.469_531del63; p.V157_Q177del21; 16:68808505-68808567	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - In frame
c.761_777del17; p.D254fs*9; 16:68810270-68810286	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.186T>C; p.G62G; 16:68801692-68801692	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2410delC; p.D805fs*11; 16:68829768-68829768	breast	hyperplasia; atypical_lobular_hyperplasia	Deletion - Frameshift
c.522_531+6del16; p.?; 16:68808558-68808573	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.1480G>T; p.E494*; 16:68815674-68815674	breast	carcinoma	Substitution - Nonsense
c.1480G>T; p.E494*; 16:68815674-68815674	NS	NS	Substitution - Nonsense
c.1006G>A; p.E336K; 16:68811857-68811857	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2355C>T; p.N785N; 16:68829713-68829713	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.447C>T; p.L149L; 16:68808483-68808483	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.1472_1473delAG; p.R492fs*44; 16:68815666-68815667	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1489G>A; p.E497K; 16:68815683-68815683	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2205G>A; p.A735A; 16:68828214-68828214	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1489G>A; p.E497K; 16:68815683-68815683	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.760G>C; p.D254H; 16:68810269-68810269	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.2280C>T; p.G760G; 16:68828289-68828289	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.871G>A; p.D291N; 16:68811722-68811722	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2514C>T; p.S838S; 16:68833364-68833364	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2280C>T; p.G760G; 16:68828289-68828289	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1339A>T; p.K447*; 16:68815533-68815533	breast	carcinoma	Substitution - Nonsense
c.96_97insA; p.D33fs*26; 16:68738344-68738345	breast	carcinoma; ER-PR-positive_carcinoma	Insertion - Frameshift
c.357delG; p.H121fs*94; 16:68801863-68801863	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.103G>T; p.E35*; 16:68738351-68738351	breast	carcinoma	Substitution - Nonsense
c.357delG; p.H121fs*94; 16:68801863-68801863	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.357delG; p.H121fs*94; 16:68801863-68801863	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.388-2A>G; p.?; 16:68808422-68808422	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2076T>C; p.A692A; 16:68823538-68823538	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.572G>A; p.S191N; 16:68808733-68808733	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2521G>A; p.E841K; 16:68833371-68833371	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2533C>G; p.L845V; 16:68833383-68833383	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.779C>A; p.P260H; 16:68810288-68810288	breast	carcinoma	Substitution - Missense
c.662A>G; p.D221G; 16:68808823-68808823	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2521G>A; p.E841K; 16:68833371-68833371	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2076T>C; p.A692A; 16:68823538-68823538	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.742A>T; p.I248F; 16:68810251-68810251	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.871delG; p.D291fs*3; 16:68811722-68811722	breast	carcinoma	Deletion - Frameshift
c.362A>G; p.H121R; 16:68801868-68801868	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Missense
c.2505T>A; p.Y835*; 16:68833355-68833355	breast	carcinoma	Substitution - Nonsense
c.1693_1694ins?; p.?fs; 16:68819407-68819408	breast	carcinoma; lobular_carcinoma	Insertion - Frameshift
c.2392C>G; p.L798V; 16:68829750-68829750	urinary_tract; bladder	carcinoma	Substitution - Missense
c.468G>T; p.W156C; 16:68808504-68808504	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1321_1389del69; p.G441_E463del23; 16:68815515-68815583	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - In frame
c.937G>A; p.D313N; 16:68811788-68811788	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1070C>T; p.T357I; 16:68812196-68812196	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1040C>T; p.A347V; 16:68812166-68812166	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1109A>G; p.D370G; 16:68812235-68812235	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1529_1533delCCCAG; p.A510fs*25; 16:68815723-68815727	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.1565+1G>A; p.?; 16:68815760-68815760	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1565+1G>A; p.?; 16:68815760-68815760	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1198G>T; p.D400Y; 16:68813373-68813373	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.1373A>T; p.N458I; 16:68815567-68815567	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.796_810del15; p.F267_V271delFKGSV; 16:68810305-68810319	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - In frame
c.1277_1278CC>AA; p.T426K; 16:68813452-68813453	bone; ilium	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1199A>G; p.D400G; 16:68813374-68813374	pancreas	carcinoma	Substitution - Missense
c.1565+1G>A; p.?; 16:68815760-68815760	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1565+1G>A; p.?; 16:68815760-68815760	breast	carcinoma	Unknown
c.1565+1G>A; p.?; 16:68815760-68815760	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1199A>G; p.D400G; 16:68813374-68813374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1156G>T; p.E386*; 16:68813331-68813331	breast	carcinoma; lobular_carcinoma	Substitution - Nonsense
c.1009-1G>A; p.?; 16:68812134-68812134	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.2184G>A; p.L728L; 16:68828193-68828193	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1009-1G>A; p.?; 16:68812134-68812134	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Unknown
c.2440-1G>A; p.?; 16:68833289-68833289	breast	carcinoma; lobular_carcinoma	Unknown
c.1009-1G>A; p.?; 16:68812134-68812134	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.1009-1G>A; p.?; 16:68812134-68812134	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Unknown
c.1009-1G>A; p.?; 16:68812134-68812134	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.1378G>T; p.V460L; 16:68815572-68815572	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1496T>G; p.F499C; 16:68815690-68815690	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.628G>T; p.E210*; 16:68808789-68808789	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1711+2T>A; p.?; 16:68819427-68819427	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1711+2T>A; p.?; 16:68819427-68819427	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1711+2T>A; p.?; 16:68819427-68819427	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.1028T>A; p.L343Q; 16:68812154-68812154	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.248_249ins41; p.T84fs*47; 16:68801754-68801755	breast	carcinoma; lobular_carcinoma	Insertion - Frameshift
c.2512A>G; p.S838G; 16:68833362-68833362	ovary	carcinoma	Substitution - Missense
c.2512A>G; p.S838G; 16:68833362-68833362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1913G>A; p.W638*; 16:68822202-68822202	breast	carcinoma; luminal_NS_carcinoma	Substitution - Nonsense
c.469G>T; p.V157F; 16:68808505-68808505	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2512A>G; p.S838G; 16:68833362-68833362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1913G>A; p.W638*; 16:68822202-68822202	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1836delA; p.N613fs*18; 16:68822125-68822125	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.2230C>T; p.P744S; 16:68828239-68828239	skin	malignant_melanoma	Substitution - Missense
c.1018A>G; p.T340A; 16:68812144-68812144	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1018A>G; p.T340A; 16:68812144-68812144	soft_tissue; fibrous_tissue_and_uncertain_o	alveolar_soft_part_sarcoma	Substitution - Missense
c.1798A>G; p.I600V; 16:68822087-68822087	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1018A>G; p.T340A; 16:68812144-68812144	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.700G>A; p.A234T; 16:68810209-68810209	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.925C>A; p.P309T; 16:68811776-68811776	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.427C>T; p.P143S; 16:68808463-68808463	liver	carcinoma	Substitution - Missense
c.427C>T; p.P143S; 16:68808463-68808463	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1507C>T; p.Q503*; 16:68815701-68815701	breast	carcinoma	Substitution - Nonsense
c.1795_1796AC>T; p.T599fs*14; 16:68822084-68822085	breast	carcinoma; lobular_carcinoma	Complex - frameshift
c.1063delT; p.L355fs*1; 16:68812189-68812189	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.1320+2_1320+11delTTTGTATGGT; p.?; 16:68813497-68813506	stomach	carcinoma; signet_ring_adenocarcinoma	Unknown
c.184G>T; p.G62C; 16:68801690-68801690	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1997A>G; p.N666S; 16:68823459-68823459	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1089_1090delCA; p.T364fs*3; 16:68812215-68812216	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1861delC; p.N622fs*9; 16:68822150-68822150	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.469G>C; p.V157L; 16:68808505-68808505	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.944A>G; p.N315S; 16:68811795-68811795	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.832G>A; p.G278R; 16:68810341-68810341	breast	carcinoma	Substitution - Missense
c.944A>G; p.N315S; 16:68811795-68811795	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.2165-1G>A; p.?; 16:68828173-68828173	breast	carcinoma	Unknown
c.2165-1G>A; p.?; 16:68828173-68828173	breast	carcinoma; lobular_carcinoma	Unknown
c.944A>G; p.N315S; 16:68811795-68811795	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2125G>A; p.A709T; 16:68823587-68823587	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Missense
c.699C>T; p.H233H; 16:68810208-68810208	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1914G>A; p.W638*; 16:68822203-68822203	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1896C>T; p.H632H; 16:68822185-68822185	thyroid	other; neoplasm	Substitution - coding silent
c.1914G>A; p.W638*; 16:68822203-68822203	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1226G>T; p.W409L; 16:68813401-68813401	breast	carcinoma	Substitution - Missense
c.524T>C; p.L175P; 16:68808560-68808560	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2321G>A; p.R774K; 16:68829679-68829679	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Missense
c.862G>A; p.D288N; 16:68811713-68811713	breast	carcinoma	Substitution - Missense
c.211C>T; p.L71F; 16:68801717-68801717	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1269delT; p.F423fs*8; 16:68813444-68813444	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.786_794delCACCCAGGA; p.F262_E265>L; 16:68810295-68810303	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Complex - deletion inframe
c.274C>T; p.H92Y; 16:68801780-68801780	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Missense
c.1309_1310delAA; p.K437fs*8; 16:68813484-68813485	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Deletion - Frameshift
c.1269delT; p.F423fs*8; 16:68813444-68813444	breast	carcinoma; luminal_NS_carcinoma	Deletion - Frameshift
c.1204G>C; p.D402H; 16:68813379-68813379	breast	carcinoma	Substitution - Missense
c.398C>T; p.S133F; 16:68808434-68808434	urinary_tract; bladder	carcinoma	Substitution - Missense
c.185G>A; p.G62D; 16:68801691-68801691	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Missense
c.1036C>T; p.Q346*; 16:68812162-68812162	breast	carcinoma	Substitution - Nonsense
c.762T>C; p.D254D; 16:68810271-68810271	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1277C>A; p.T426N; 16:68813452-68813452	bone; ilium	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1204G>C; p.D402H; 16:68813379-68813379	stomach	carcinoma; signet_ring_adenocarcinoma	Substitution - Missense
c.1742T>C; p.L581P; 16:68822031-68822031	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1742T>C; p.L581P; 16:68822031-68822031	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.762T>C; p.D254D; 16:68810271-68810271	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1204G>C; p.D402H; 16:68813379-68813379	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1286C>T; p.P429L; 16:68813461-68813461	skin	malignant_melanoma	Substitution - Missense
c.2467delA; p.T823fs*23; 16:68833317-68833317	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.1711+1G>C; p.?; 16:68819426-68819426	breast	carcinoma; lobular_carcinoma	Unknown
c.727G>T; p.E243*; 16:68810236-68810236	breast	carcinoma; luminal_NS_carcinoma	Substitution - Nonsense
c.1551delG; p.E518fs*4; 16:68815745-68815745	breast	carcinoma	Deletion - Frameshift
c.2471C>T; p.A824V; 16:68833321-68833321	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2173C>T; p.L725L; 16:68828182-68828182	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1381C>T; p.P461S; 16:68815575-68815575	skin	malignant_melanoma	Substitution - Missense
c.1947_1948insT; p.I650fs*13; 16:68823409-68823410	breast	carcinoma; lobular_carcinoma	Insertion - Frameshift
c.727G>C; p.E243Q; 16:68810236-68810236	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1027C>T; p.L343L; 16:68812153-68812153	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - coding silent
c.221G>A; p.R74Q; 16:68801727-68801727	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1422C>T; p.T474T; 16:68815616-68815616	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.221G>A; p.R74Q; 16:68801727-68801727	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1849G>A; p.A617T; 16:68822138-68822138	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.221G>A; p.R74Q; 16:68801727-68801727	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1566A>C; p.T522T; 16:68819280-68819280	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1849G>A; p.A617T; 16:68822138-68822138	soft_tissue; fibrous_tissue_and_uncertain_o	gastrointestinal_stromal_tumour; spindle	Substitution - Missense
c.1320+1delG; p.?; 16:68813496-68813496	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.1849G>A; p.A617T; 16:68822138-68822138	endometrium	carcinoma	Substitution - Missense
c.1849G>A; p.A617T; 16:68822138-68822138	lung	carcinoma; mucoepidermoid_carcinoma	Substitution - Missense
c.846_867del22; p.E283fs*4; 16:68811697-68811718	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.2224C>T; p.L742L; 16:68828233-68828233	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.478C>T; p.P160S; 16:68808514-68808514	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1059G>A; p.E353E; 16:68812185-68812185	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1320+1G>A; p.?; 16:68813496-68813496	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.478C>T; p.P160S; 16:68808514-68808514	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1198_1200delGAT; p.D400delD; 16:68813373-68813375	stomach	carcinoma; undifferentiated_adenocarcinoma	Deletion - In frame
c.900C>A; p.I300I; 16:68811751-68811751	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1833C>T; p.V611V; 16:68822122-68822122	skin	malignant_melanoma	Substitution - coding silent
c.1280C>A; p.T427K; 16:68813455-68813455	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2155_2156insG; p.A719fs*29; 16:68823617-68823618	breast	carcinoma; lobular_carcinoma	Insertion - Frameshift
c.755T>G; p.V252G; 16:68810264-68810264	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.925C>T; p.P309S; 16:68811776-68811776	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.2218C>T; p.P740S; 16:68828227-68828227	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Missense
c.2185C>T; p.L729L; 16:68828194-68828194	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2222_2223insA; p.L742fs*6; 16:68828231-68828232	breast	carcinoma; lobular_carcinoma	Insertion - Frameshift
c.760G>A; p.D254N; 16:68810269-68810269	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.760G>A; p.D254N; 16:68810269-68810269	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.760G>A; p.D254N; 16:68810269-68810269	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1009_1137del129; p.S337_T379del43; 16:68812135-68812263	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - In frame
c.2080G>A; p.V694I; 16:68823542-68823542	stomach	adenocarcinoma	Substitution - Missense
c.781G>T; p.E261*; 16:68810290-68810290	breast	carcinoma; lobular_carcinoma	Substitution - Nonsense
c.1093G>A; p.V365I; 16:68812219-68812219	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1564A>G; p.T522A; 16:68815758-68815758	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.712A>G; p.N238D; 16:68810221-68810221	soft_tissue; fat	liposarcoma; dedifferentiated	Substitution - Missense
c.1564A>G; p.T522A; 16:68815758-68815758	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.900C>G; p.I300M; 16:68811751-68811751	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.163+4A>C; p.?; 16:68738415-68738415	prostate	carcinoma; adenocarcinoma	Unknown
c.163G>C; p.V55L; 16:68738411-68738411	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.2498T>A; p.F833Y; 16:68833348-68833348	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1671G>T; p.K557N; 16:68819385-68819385	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.769G>A; p.D257N; 16:68810278-68810278	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.769G>A; p.D257N; 16:68810278-68810278	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1793G>A; p.R598Q; 16:68822082-68822082	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.136_143delCTGGAGAG; p.L46fs*10; 16:68738384-68738391	breast	carcinoma; ER-PR-positive_carcinoma	Deletion - Frameshift
c.1519_1525delTCCTACA; p.S507fs*13; 16:68815713-68815719	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.769G>A; p.D257N; 16:68810278-68810278	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.739G>A; p.E247K; 16:68810248-68810248	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2195G>A; p.R732Q; 16:68828204-68828204	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1223C>A; p.A408E; 16:68813398-68813398	thyroid	other; neoplasm	Substitution - Missense
c.378_379insC; p.H128fs*40; 16:68801884-68801885	breast	carcinoma; lobular_carcinoma	Insertion - Frameshift
c.727G>A; p.E243K; 16:68810236-68810236	breast	carcinoma	Substitution - Missense
c.922G>A; p.D308N; 16:68811773-68811773	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Missense
c.2195G>A; p.R732Q; 16:68828204-68828204	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2195G>A; p.R732Q; 16:68828204-68828204	breast	carcinoma	Substitution - Missense
c.2195G>A; p.R732Q; 16:68828204-68828204	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1366G>A; p.V456M; 16:68815560-68815560	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Missense
c.2195G>A; p.R732Q; 16:68828204-68828204	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.727G>A; p.E243K; 16:68810236-68810236	breast	carcinoma	Substitution - Missense
c.727G>A; p.E243K; 16:68810236-68810236	breast	carcinoma	Substitution - Missense
c.2195G>A; p.R732Q; 16:68828204-68828204	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2195G>A; p.R732Q; 16:68828204-68828204	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.67C>T; p.Q23*; 16:68738315-68738315	breast	carcinoma; lobular_carcinoma	Substitution - Nonsense
c.67C>T; p.Q23*; 16:68738315-68738315	breast	carcinoma; lobular_carcinoma	Substitution - Nonsense
c.67C>T; p.Q23*; 16:68738315-68738315	breast	carcinoma	Substitution - Nonsense
c.67C>T; p.Q23*; 16:68738315-68738315	breast	carcinoma	Substitution - Nonsense
c.67C>T; p.Q23*; 16:68738315-68738315	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.67C>T; p.Q23*; 16:68738315-68738315	breast	carcinoma	Substitution - Nonsense
c.846G>T; p.M282I; 16:68811697-68811697	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.67C>T; p.Q23*; 16:68738315-68738315	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Nonsense
c.1774_1775insC; p.I594fs*11; 16:68822063-68822064	breast	carcinoma	Insertion - Frameshift
c.741G>A; p.E247E; 16:68810250-68810250	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.763C>T; p.Q255*; 16:68810272-68810272	breast	carcinoma	Substitution - Nonsense
c.763C>T; p.Q255*; 16:68810272-68810272	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Nonsense
c.2320A>G; p.R774G; 16:68829678-68829678	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.67C>T; p.Q23*; 16:68738315-68738315	breast	carcinoma	Substitution - Nonsense
c.67C>T; p.Q23*; 16:68738315-68738315	breast	carcinoma	Substitution - Nonsense
c.67C>T; p.Q23*; 16:68738315-68738315	breast	carcinoma	Substitution - Nonsense
c.67C>T; p.Q23*; 16:68738315-68738315	breast	carcinoma	Substitution - Nonsense
c.1569T>G; p.Y523*; 16:68819283-68819283	NS	NS	Substitution - Nonsense
c.1105_1106insACCAAC; p.N369_D370insQH; 16:68812231-68812232	stomach	carcinoma; diffuse_adenocarcinoma	Insertion - In frame
c.2120delT; p.P708fs*14; 16:68823582-68823582	breast	carcinoma	Deletion - Frameshift
c.846G>T; p.M282I; 16:68811697-68811697	breast	carcinoma	Substitution - Missense
c.2210T>A; p.V737D; 16:68828219-68828219	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1278C>A; p.T426T; 16:68813453-68813453	bone; ilium	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.735A>T; p.P245P; 16:68810244-68810244	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.687+1_687+3delGTA; p.?; 16:68808849-68808851	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.1627delT; p.S543fs*14; 16:68819341-68819341	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.1320+1G>T; p.?; 16:68813496-68813496	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.869A>G; p.D290G; 16:68811720-68811720	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2291_2292insC; p.Q765fs*4; 16:68828300-68828301	breast	carcinoma	Insertion - Frameshift
c.2189delT; p.L731fs*39; 16:68828198-68828198	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.1320+1G>T; p.?; 16:68813496-68813496	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.1320+1G>T; p.?; 16:68813496-68813496	stomach	carcinoma; adenocarcinoma	Unknown
c.869A>G; p.D290G; 16:68811720-68811720	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2071G>A; p.A691T; 16:68823533-68823533	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2071G>A; p.A691T; 16:68823533-68823533	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.558_575del18; p.K187_I192delKVFYSI; 16:68808719-68808736	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - In frame
c.294C>A; p.F98L; 16:68801800-68801800	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1027delC; p.L343fs*13; 16:68812153-68812153	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - Frameshift
c.1027delC; p.L343fs*13; 16:68812153-68812153	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - Frameshift
c.698A>G; p.H233R; 16:68810207-68810207	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1531C>T; p.Q511*; 16:68815725-68815725	breast	carcinoma	Substitution - Nonsense
c.1800A>G; p.I600M; 16:68822089-68822089	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Missense
c.1475G>T; p.R492I; 16:68815669-68815669	NS	NS	Substitution - Missense
c.633A>T; p.T211T; 16:68808794-68808794	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1093G>C; p.V365L; 16:68812219-68812219	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.276T>C; p.H92H; 16:68801782-68801782	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.375C>A; p.P125P; 16:68801881-68801881	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2474C>T; p.P825L; 16:68833324-68833324	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1913G>T; p.W638L; 16:68822202-68822202	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2287G>T; p.E763*; 16:68828296-68828296	breast	carcinoma; lobular_carcinoma	Substitution - Nonsense
c.194_195GG>TT; p.R65I; 16:68801700-68801701	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1108G>C; p.D370H; 16:68812234-68812234	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1108G>C; p.D370H; 16:68812234-68812234	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.811_820del10; p.M272fs*7; 16:68810320-68810329	breast	carcinoma	Deletion - Frameshift
c.1108G>C; p.D370H; 16:68812234-68812234	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.960_961ins?; p.?fs; 16:68811811-68811812	breast	carcinoma; lobular_carcinoma	Insertion - Frameshift
c.2193T>C; p.L731L; 16:68828202-68828202	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2275delG; p.G759fs*11; 16:68828284-68828284	breast	carcinoma	Deletion - Frameshift
c.1009-3_1009-1delCAG; p.?; 16:68812132-68812134	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.1875_1876insT; p.T627fs*36; 16:68822164-68822165	breast	carcinoma	Insertion - Frameshift
c.664A>G; p.R222G; 16:68808825-68808825	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1342C>T; p.Q448*; 16:68815536-68815536	NS	NS	Substitution - Nonsense
c.668A>T; p.E223V; 16:68808829-68808829	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1009-2A>C; p.?; 16:68812133-68812133	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.284A>T; p.Q95L; 16:68801790-68801790	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1027C>A; p.L343M; 16:68812153-68812153	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1199A>T; p.D400V; 16:68813374-68813374	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1320+1G>C; p.?; 16:68813496-68813496	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.786_787insA; p.T263fs*6; 16:68810295-68810296	breast	carcinoma; lobular_carcinoma	Insertion - Frameshift
c.1320+1G>C; p.?; 16:68813496-68813496	breast	carcinoma	Unknown
c.1009-2_1009-1delAG; p.?; 16:68812133-68812134	breast	carcinoma; lobular_carcinoma	Unknown
c.1008delG; p.S337fs*19; 16:68811859-68811859	stomach	carcinoma; signet_ring_adenocarcinoma	Deletion - Frameshift
c.1214A>G; p.N405S; 16:68813389-68813389	upper_aerodigestive_tract; head_neck	carcinoma	Substitution - Missense
c.461_466delGAGACT; p.D155_W156delDW; 16:68808497-68808502	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - In frame
c.1214A>G; p.N405S; 16:68813389-68813389	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.377_378insC; p.P127fs*41; 16:68801883-68801884	endometrium	carcinoma	Insertion - Frameshift
c.360delG; p.H121fs*94; 16:68801866-68801866	large_intestine; colon	carcinoma	Deletion - Frameshift
c.926_960del35; p.P309fs*29; 16:68811777-68811811	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.1355T>G; p.L452R; 16:68815549-68815549	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1207G>A; p.A403T; 16:68813382-68813382	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1510G>T; p.E504*; 16:68815704-68815704	breast	carcinoma; lobular_carcinoma	Substitution - Nonsense
c.635G>A; p.G212E; 16:68808796-68808796	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1215_1234del20; p.T406fs*6; 16:68813390-68813409	breast	carcinoma	Deletion - Frameshift
c.1138_1320del183; p.Y380_K440del61; 16:68813313-68813495	breast	carcinoma; ductal_carcinoma	Deletion - In frame
c.688-1G>A; p.?; 16:68810196-68810196	breast	carcinoma	Unknown
c.688-1G>A; p.?; 16:68810196-68810196	stomach	carcinoma; adenocarcinoma	Unknown
c.1138_1320del183; p.Y380_K440del61; 16:68813313-68813495	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - In frame
c.600C>A; p.P200P; 16:68808761-68808761	breast	carcinoma	Substitution - coding silent
c.478_479insG; p.P160fs*8; 16:68808514-68808515	breast	carcinoma	Insertion - Frameshift
c.1057G>A; p.E353K; 16:68812183-68812183	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.665G>T; p.R222I; 16:68808826-68808826	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.259A>G; p.R87G; 16:68801765-68801765	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.577A>C; p.T193P; 16:68808738-68808738	stomach	carcinoma; signet_ring_adenocarcinoma	Substitution - Missense
c.2552C>T; p.S851L; 16:68833402-68833402	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Missense
c.899T>C; p.I300T; 16:68811750-68811750	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.899T>C; p.I300T; 16:68811750-68811750	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2538C>T; p.S846S; 16:68833388-68833388	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1204G>A; p.D402N; 16:68813379-68813379	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.332C>T; p.S111F; 16:68801838-68801838	bone	osteosarcoma	Substitution - Missense
c.337A>G; p.K113E; 16:68801843-68801843	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1796C>T; p.T599I; 16:68822085-68822085	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1645G>T; p.D549Y; 16:68819359-68819359	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.1423G>A; p.V475M; 16:68815617-68815617	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.583C>T; p.Q195*; 16:68808744-68808744	breast	carcinoma	Substitution - Nonsense
c.583C>T; p.Q195*; 16:68808744-68808744	breast	carcinoma	Substitution - Nonsense
c.1204G>A; p.D402N; 16:68813379-68813379	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.884C>T; p.T295I; 16:68811735-68811735	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1054_1058delGGTGA; p.E353fs*13; 16:68812180-68812184	breast	carcinoma; basal_(triple-negative)_carcinoma	Deletion - Frameshift
c.884C>T; p.T295I; 16:68811735-68811735	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1901C>T; p.A634V; 16:68822190-68822190	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1901C>T; p.A634V; 16:68822190-68822190	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1957A>T; p.K653*; 16:68823419-68823419	breast	carcinoma; lobular_carcinoma	Substitution - Nonsense
c.1921C>T; p.Q641*; 16:68822210-68822210	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.735A>G; p.P245P; 16:68810244-68810244	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1921C>T; p.Q641*; 16:68822210-68822210	breast	carcinoma	Substitution - Nonsense
c.1901C>T; p.A634V; 16:68822190-68822190	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1901C>T; p.A634V; 16:68822190-68822190	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.601C>T; p.P201S; 16:68808762-68808762	skin	malignant_melanoma	Substitution - Missense
c.1773C>T; p.N591N; 16:68822062-68822062	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1966_1972delATGGCCT; p.M656fs*1; 16:68823428-68823434	breast	carcinoma	Deletion - Frameshift
c.733C>T; p.P245S; 16:68810242-68810242	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.173A>G; p.E58G; 16:68801679-68801679	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.532-1G>T; p.?; 16:68808692-68808692	breast	carcinoma; lobular_carcinoma	Unknown
c.1565C>T; p.T522I; 16:68815759-68815759	breast	carcinoma; luminal_NS_carcinoma	Substitution - Missense
c.1092_1098delAGTCACT; p.V365fs*26; 16:68812218-68812224	breast	carcinoma	Deletion - Frameshift
c.532-1G>T; p.?; 16:68808692-68808692	breast	carcinoma; lobular_carcinoma	Unknown
c.532-1G>T; p.?; 16:68808692-68808692	stomach	carcinoma; adenocarcinoma	Unknown
c.2643C>T; p.D881D; 16:68833493-68833493	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.372delC; p.P126fs*89; 16:68801878-68801878	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.372delC; p.P126fs*89; 16:68801878-68801878	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.372delC; p.P126fs*89; 16:68801878-68801878	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.372delC; p.P126fs*89; 16:68801878-68801878	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.372delC; p.P126fs*89; 16:68801878-68801878	breast	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.372delC; p.P126fs*89; 16:68801878-68801878	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2074G>A; p.A692T; 16:68823536-68823536	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.372delC; p.P126fs*89; 16:68801878-68801878	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1323_1333del11; p.L442fs*18; 16:68815517-68815527	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Deletion - Frameshift
c.1010_1011insA; p.S337fs*13; 16:68812136-68812137	stomach	carcinoma; signet_ring_adenocarcinoma	Insertion - Frameshift
c.1679C>G; p.T560R; 16:68819393-68819393	breast	carcinoma	Substitution - Missense
c.372delC; p.P126fs*89; 16:68801878-68801878	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.174A>G; p.E58E; 16:68801680-68801680	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.372delC; p.P126fs*89; 16:68801878-68801878	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.767A>G; p.N256S; 16:68810276-68810276	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1136C>T; p.T379M; 16:68812262-68812262	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.846delG; p.E283fs*11; 16:68811697-68811697	breast	carcinoma	Deletion - Frameshift
c.817G>A; p.E273K; 16:68810326-68810326	prostate	carcinoma	Substitution - Missense
c.760G>T; p.D254Y; 16:68810269-68810269	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.760G>T; p.D254Y; 16:68810269-68810269	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.760G>T; p.D254Y; 16:68810269-68810269	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1792C>T; p.R598*; 16:68822081-68822081	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.760G>T; p.D254Y; 16:68810269-68810269	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.760G>T; p.D254Y; 16:68810269-68810269	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.760G>T; p.D254Y; 16:68810269-68810269	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Missense
c.1792C>T; p.R598*; 16:68822081-68822081	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2044_2062del19; p.E682fs*34; 16:68823506-68823524	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.2075C>T; p.A692V; 16:68823537-68823537	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Missense
c.1000G>C; p.D334H; 16:68811851-68811851	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1000G>C; p.D334H; 16:68811851-68811851	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.209C>T; p.S70F; 16:68801715-68801715	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.488G>C; p.C163S; 16:68808524-68808524	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1000G>C; p.D334H; 16:68811851-68811851	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2480_2481insTGAT; p.S829fs*1; 16:68833330-68833331	breast	carcinoma	Insertion - Frameshift
c.1320G>T; p.K440N; 16:68813495-68813495	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1320G>T; p.K440N; 16:68813495-68813495	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2131C>G; p.L711V; 16:68823593-68823593	endometrium	carcinoma	Substitution - Missense
c.1252_1269del18; p.D418_F423delDDGGQF; 16:68813427-68813444	stomach	carcinoma; undifferentiated_adenocarcinoma	Deletion - In frame
c.49_163del115; p.V17fs*1; 16:68738297-68738411	breast	carcinoma	Deletion - Frameshift
c.49_163del115; p.V17fs*1; 16:68738297-68738411	breast	carcinoma; luminal_NS_carcinoma	Deletion - Frameshift
c.49_163del115; p.V17fs*1; 16:68738297-68738411	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.2292_2293insC; p.Q765fs*4; 16:68828301-68828302	breast	carcinoma	Insertion - Frameshift
c.1387G>T; p.E463*; 16:68815581-68815581	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.220C>T; p.R74*; 16:68801726-68801726	breast	carcinoma	Substitution - Nonsense
c.1436A>G; p.D479G; 16:68815630-68815630	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.220C>T; p.R74*; 16:68801726-68801726	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.939_946delCAAAAATA; p.K314fs*4; 16:68811790-68811797	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.1436A>G; p.D479G; 16:68815630-68815630	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.220C>T; p.R74*; 16:68801726-68801726	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1929C>T; p.N643N; 16:68822218-68822218	pancreas	carcinoma	Substitution - coding silent
c.187C>G; p.R63G; 16:68801693-68801693	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.1676G>A; p.S559N; 16:68819390-68819390	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.204_205insT; p.S70fs*24; 16:68801710-68801711	stomach	carcinoma; diffuse_adenocarcinoma	Insertion - Frameshift
c.2213A>G; p.K738R; 16:68828222-68828222	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1676G>A; p.S559N; 16:68819390-68819390	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Missense
c.187C>G; p.R63G; 16:68801693-68801693	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Missense
c.2002A>T; p.K668*; 16:68823464-68823464	breast	carcinoma	Substitution - Nonsense
c.184G>A; p.G62S; 16:68801690-68801690	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.614T>C; p.F205S; 16:68808775-68808775	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1147C>T; p.Q383*; 16:68813322-68813322	breast	carcinoma	Substitution - Nonsense
c.2156C>T; p.A719V; 16:68823618-68823618	skin	malignant_melanoma	Substitution - Missense
c.823_832+8del18; p.?; 16:68810332-68810349	stomach	carcinoma; adenocarcinoma	Unknown
c.1105A>G; p.N369D; 16:68812231-68812231	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1105A>G; p.N369D; 16:68812231-68812231	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.823_832+8del18; p.?; 16:68810332-68810349	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.269G>A; p.R90Q; 16:68801775-68801775	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.823_832+8del18; p.?; 16:68810332-68810349	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.88C>A; p.P30T; 16:68738336-68738336	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.52_53insCA; p.S19fs*38; 16:68738300-68738301	breast	carcinoma	Insertion - Frameshift
c.862_867GACGCG>A; p.D288fs*3; 16:68811713-68811718	breast	carcinoma; lobular_carcinoma	Complex - frameshift
c.269G>A; p.R90Q; 16:68801775-68801775	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1252G>A; p.D418N; 16:68813427-68813427	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.601C>G; p.P201A; 16:68808762-68808762	breast	carcinoma	Substitution - Missense
c.697C>T; p.H233Y; 16:68810206-68810206	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1333G>C; p.E445Q; 16:68815527-68815527	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.671G>A; p.R224H; 16:68808832-68808832	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.287T>C; p.I96T; 16:68801793-68801793	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2183T>A; p.L728*; 16:68828192-68828192	breast	carcinoma	Substitution - Nonsense
c.2617G>A; p.A873T; 16:68833467-68833467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1266A>G; p.Q422Q; 16:68813441-68813441	oesophagus	carcinoma	Substitution - coding silent
c.459delG; p.R154fs*61; 16:68808495-68808495	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.767A>T; p.N256I; 16:68810276-68810276	prostate	carcinoma	Substitution - Missense
c.1040C>A; p.A347D; 16:68812166-68812166	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1936+1G>A; p.?; 16:68822226-68822226	breast	carcinoma	Unknown
c.764A>T; p.Q255L; 16:68810273-68810273	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.49_50insAG; p.V17fs*40; 16:68738297-68738298	breast	carcinoma; lobular_carcinoma	Insertion - Frameshift
c.1971delC; p.L658fs*1; 16:68823433-68823433	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.602delC; p.P201fs*14; 16:68808763-68808763	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2246G>A; p.R749Q; 16:68828255-68828255	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.379delC; p.H128fs*87; 16:68801885-68801885	stomach	adenocarcinoma	Deletion - Frameshift
c.2361_2374del14; p.A788fs*14; 16:68829719-68829732	breast	carcinoma	Deletion - Frameshift
c.699C>G; p.H233Q; 16:68810208-68810208	breast	carcinoma; luminal_NS_carcinoma	Substitution - Missense
c.1596G>A; p.W532*; 16:68819310-68819310	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2557T>C; p.S853P; 16:68833407-68833407	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.531+2T>C; p.?; 16:68808569-68808569	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.1774G>A; p.A592T; 16:68822063-68822063	thyroid	carcinoma; papillary_carcinoma	Substitution - Missense
c.1774G>A; p.A592T; 16:68822063-68822063	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1946_1947insT; p.I650fs*13; 16:68823408-68823409	breast	carcinoma	Insertion - Frameshift
c.714C>T; p.N238N; 16:68810223-68810223	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1774G>A; p.A592T; 16:68822063-68822063	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.1041delT; p.A348fs*8; 16:68812167-68812167	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.1774G>A; p.A592T; 16:68822063-68822063	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.688_832del145; p.L230fs*4; 16:68810197-68810341	breast	carcinoma; luminal_NS_carcinoma	Deletion - Frameshift
c.2053G>A; p.V685M; 16:68823515-68823515	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.734_735insA; p.M246fs*12; 16:68810243-68810244	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2196G>A; p.R732R; 16:68828205-68828205	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.771C>T; p.D257D; 16:68810280-68810280	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.864C>T; p.D288D; 16:68811715-68811715	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - coding silent
c.1564_1565insGT; p.T522fs*36; 16:68815758-68815759	breast	carcinoma; lobular_carcinoma	Insertion - Frameshift
c.1138-21_1138del22; p.?; 16:68813292-68813313	breast	carcinoma; luminal_NS_carcinoma	Unknown
c.338_348del11; p.V114fs*50; 16:68801844-68801854	breast	carcinoma	Deletion - Frameshift
c.866C>T; p.A289V; 16:68811717-68811717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1777C>T; p.P593S; 16:68822066-68822066	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1223C>T; p.A408V; 16:68813398-68813398	stomach	carcinoma; signet_ring_adenocarcinoma	Substitution - Missense
c.1223C>T; p.A408V; 16:68813398-68813398	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.1511delA; p.I505fs*17; 16:68815705-68815705	breast	carcinoma	Deletion - Frameshift
c.1003C>T; p.R335*; 16:68811854-68811854	breast	carcinoma	Substitution - Nonsense
c.1003C>T; p.R335*; 16:68811854-68811854	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1003C>T; p.R335*; 16:68811854-68811854	breast	carcinoma	Substitution - Nonsense
c.939_940insA; p.N315fs*6; 16:68811790-68811791	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.602_628del27; p.P201_E210>Q; 16:68808763-68808789	stomach	carcinoma; diffuse_adenocarcinoma	Complex - deletion inframe
c.1283A>G; p.N428S; 16:68813458-68813458	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2047_2048delGT; p.V683fs*4; 16:68823509-68823510	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.2552C>A; p.S851*; 16:68833402-68833402	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1477G>C; p.V493L; 16:68815671-68815671	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Missense
c.1224G>A; p.A408A; 16:68813399-68813399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2253C>T; p.N751N; 16:68828262-68828262	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - coding silent
c.1711+2T>C; p.?; 16:68819427-68819427	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.2253C>T; p.N751N; 16:68828262-68828262	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1948_1964del17; p.I650fs*7; 16:68823410-68823426	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.687+2T>G; p.?; 16:68808850-68808850	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Unknown
c.532-1G>C; p.?; 16:68808692-68808692	breast	carcinoma	Unknown
c.2191C>T; p.L731F; 16:68828200-68828200	urinary_tract; bladder	carcinoma	Substitution - Missense
c.863A>G; p.D288G; 16:68811714-68811714	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.687+1_687+2delGT; p.?; 16:68808849-68808850	breast	carcinoma; ductal_carcinoma	Unknown
c.2191C>T; p.L731F; 16:68828200-68828200	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.499G>T; p.E167*; 16:68808535-68808535	breast	carcinoma; lobular_carcinoma	Substitution - Nonsense
c.532-1G>C; p.?; 16:68808692-68808692	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Unknown
c.532-1G>C; p.?; 16:68808692-68808692	breast	carcinoma; luminal_NS_carcinoma	Unknown
c.2321delG; p.G775fs*8; 16:68829679-68829679	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.687+1_687+2delGT; p.?; 16:68808849-68808850	breast	carcinoma; luminal_NS_carcinoma	Unknown
c.371_372insC; p.P127fs*41; 16:68801877-68801878	breast	carcinoma; lobular_carcinoma	Insertion - Frameshift
c.187C>T; p.R63*; 16:68801693-68801693	breast	carcinoma	Substitution - Nonsense
c.371_372insC; p.P127fs*41; 16:68801877-68801878	breast	carcinoma	Insertion - Frameshift
c.1196_1199delCTGA; p.T399fs*17; 16:68813371-68813374	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.1712-1G>A; p.?; 16:68822000-68822000	breast	carcinoma	Unknown
c.548_549delAC; p.D183fs*15; 16:68808709-68808710	breast	carcinoma; ER-PR-positive_carcinoma	Deletion - Frameshift
c.187C>T; p.R63*; 16:68801693-68801693	breast	carcinoma	Substitution - Nonsense
c.1196_1199delCTGA; p.T399fs*17; 16:68813371-68813374	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.60_79del20; p.W20fs*7; 16:68738308-68738327	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.187C>T; p.R63*; 16:68801693-68801693	breast	carcinoma	Substitution - Nonsense
c.2095C>T; p.Q699*; 16:68823557-68823557	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Nonsense
c.1196_1199delCTGA; p.T399fs*17; 16:68813371-68813374	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.1712-1G>A; p.?; 16:68822000-68822000	breast	carcinoma; luminal_NS_carcinoma	Unknown
c.187C>T; p.R63*; 16:68801693-68801693	breast	carcinoma	Substitution - Nonsense
c.110_111insA; p.Y37fs*1; 16:68738358-68738359	breast	carcinoma; lobular_carcinoma	Insertion - Frameshift
c.781G>A; p.E261K; 16:68810290-68810290	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2204C>T; p.A735V; 16:68828213-68828213	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1942G>T; p.E648*; 16:68823404-68823404	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.318C>T; p.T106T; 16:68801824-68801824	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1942G>T; p.E648*; 16:68823404-68823404	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1496_1497insG; p.F499fs*38; 16:68815690-68815691	breast	carcinoma	Insertion - Frameshift
c.1936+1G>T; p.?; 16:68822226-68822226	breast	carcinoma	Unknown
c.1936+1G>T; p.?; 16:68822226-68822226	stomach	carcinoma; adenocarcinoma	Unknown
c.207_208insA; p.S70fs*24; 16:68801713-68801714	breast	carcinoma; lobular_carcinoma	Insertion - Frameshift
c.1106A>G; p.N369S; 16:68812232-68812232	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.86_89ACCC>GTG; p.H29fs*27; 16:68738334-68738337	NS	NS	Complex - frameshift
c.1137G>A; p.T379T; 16:68812263-68812263	breast	carcinoma	Substitution - coding silent
c.476C>T; p.P159L; 16:68808512-68808512	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1383delT; p.F462fs*19; 16:68815577-68815577	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.893C>T; p.A298V; 16:68811744-68811744	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.779C>T; p.P260L; 16:68810288-68810288	breast	carcinoma_in_situ; ductal_carcinoma_in_situ	Substitution - Missense
c.583C>A; p.Q195K; 16:68808744-68808744	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.2551T>C; p.S851P; 16:68833401-68833401	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1435G>T; p.D479Y; 16:68815629-68815629	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1418T>A; p.V473D; 16:68815612-68815612	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1198G>A; p.D400N; 16:68813373-68813373	stomach	carcinoma; undifferentiated_adenocarcinoma	Substitution - Missense
c.1435G>T; p.D479Y; 16:68815629-68815629	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1161C>T; p.N387N; 16:68813336-68813336	liver	carcinoma	Substitution - coding silent
c.1161C>T; p.N387N; 16:68813336-68813336	liver	carcinoma	Substitution - coding silent
c.1161C>T; p.N387N; 16:68813336-68813336	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - coding silent
c.271delT; p.H92fs*25; 16:68801777-68801777	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1711G>A; p.G571S; 16:68819425-68819425	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.2600A>G; p.N867S; 16:68833450-68833450	breast	carcinoma	Substitution - Missense
c.1297G>A; p.D433N; 16:68813472-68813472	prostate	carcinoma	Substitution - Missense
c.1711G>A; p.G571S; 16:68819425-68819425	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1819C>T; p.P607S; 16:68822108-68822108	breast	carcinoma	Substitution - Missense
c.2267_2268insT; p.E757fs*1; 16:68828276-68828277	breast	carcinoma	Insertion - Frameshift
c.893C>A; p.A298D; 16:68811744-68811744	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Missense
c.531+1G>A; p.?; 16:68808568-68808568	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.531+1G>A; p.?; 16:68808568-68808568	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Unknown
c.1069A>G; p.T357A; 16:68812195-68812195	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.798C>T; p.V266V; 16:68810307-68810307	skin	malignant_melanoma	Substitution - coding silent
c.2537G>C; p.S846T; 16:68833387-68833387	urinary_tract; bladder	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2294_2295insA; p.D766fs*3; 16:68828303-68828304	breast	carcinoma; ER-PR-positive_carcinoma	Insertion - Frameshift
c.1890_1891insAC; p.G633fs*21; 16:68822179-68822180	breast	carcinoma; ductal_carcinoma	Insertion - Frameshift
c.1009-2A>G; p.?; 16:68812133-68812133	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.1009-2A>G; p.?; 16:68812133-68812133	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.856G>A; p.A286T; 16:68811707-68811707	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Missense
c.2266_2267insAT; p.E757fs*14; 16:68828275-68828276	breast	carcinoma	Insertion - Frameshift
c.106delA; p.S36fs*20; 16:68738354-68738354	breast	carcinoma	Deletion - Frameshift
c.856G>A; p.A286T; 16:68811707-68811707	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Missense
c.2022T>A; p.N674K; 16:68823484-68823484	skin	malignant_melanoma	Substitution - Missense
c.1226G>A; p.W409*; 16:68813401-68813401	breast	carcinoma	Substitution - Nonsense
c.866_867delCG; p.A289fs*3; 16:68811717-68811718	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.861A>G; p.T287T; 16:68811712-68811712	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.240_241insGGTG; p.V82fs*13; 16:68801746-68801747	breast	carcinoma; lobular_carcinoma	Insertion - Frameshift
c.116_117insT; p.T40fs*19; 16:68738364-68738365	breast	carcinoma; lobular_carcinoma	Insertion - Frameshift
c.866_867delCG; p.A289fs*3; 16:68811717-68811718	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.240_241insGGTG; p.V82fs*13; 16:68801746-68801747	breast	carcinoma; lobular_carcinoma	Insertion - Frameshift
c.240_241insGGTG; p.V82fs*13; 16:68801746-68801747	breast	carcinoma; lobular_carcinoma	Insertion - Frameshift
c.59G>A; p.W20*; 16:68738307-68738307	breast	carcinoma; lobular_carcinoma	Substitution - Nonsense
c.240_241insGGTG; p.V82fs*13; 16:68801746-68801747	breast	carcinoma; lobular_carcinoma	Insertion - Frameshift
c.88C>T; p.P30S; 16:68738336-68738336	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.68A>G; p.Q23R; 16:68738316-68738316	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1548_1560del13; p.F516fs*2; 16:68815742-68815754	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.68A>G; p.Q23R; 16:68738316-68738316	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1070C>A; p.T357K; 16:68812196-68812196	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.745T>G; p.L249V; 16:68810254-68810254	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.692_693delTC; p.H233fs*10; 16:68810201-68810202	breast	carcinoma	Deletion - Frameshift
c.780C>A; p.P260P; 16:68810289-68810289	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1468G>A; p.E490K; 16:68815662-68815662	NS	NS	Substitution - Missense
c.1387G>C; p.E463Q; 16:68815581-68815581	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.734C>T; p.P245L; 16:68810243-68810243	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.302A>G; p.Y101C; 16:68801808-68801808	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2483_2484insT; p.S829fs*6; 16:68833333-68833334	stomach	carcinoma; diffuse_adenocarcinoma	Insertion - Frameshift
c.734C>T; p.P245L; 16:68810243-68810243	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Missense
c.1057G>T; p.E353*; 16:68812183-68812183	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Nonsense
c.1057G>T; p.E353*; 16:68812183-68812183	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Nonsense
c.1367T>C; p.V456A; 16:68815561-68815561	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1654G>A; p.D552N; 16:68819368-68819368	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1367T>C; p.V456A; 16:68815561-68815561	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1019C>T; p.T340M; 16:68812145-68812145	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1019C>T; p.T340M; 16:68812145-68812145	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1733_1734insC; p.G579fs*9; 16:68822022-68822023	stomach	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1881_1888delAGCAGAAC; p.A628fs*32; 16:68822170-68822177	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.1200_1201insA; p.A401fs*2; 16:68813375-68813376	breast	carcinoma	Insertion - Frameshift
c.1795A>G; p.T599A; 16:68822084-68822084	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1795A>G; p.T599A; 16:68822084-68822084	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2132T>A; p.L711Q; 16:68823594-68823594	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.786_794CACCCAGGA>T; p.T263fs*3; 16:68810295-68810303	breast	carcinoma_in_situ; ductal_carcinoma_in_situ	Complex - frameshift
c.989C>T; p.T330I; 16:68811840-68811840	breast	carcinoma_in_situ; lobular_carcinoma_in_situ	Substitution - Missense
c.786_794CACCCAGGA>T; p.T263fs*3; 16:68810295-68810303	breast	carcinoma_in_situ; ductal_and_lobular_carcinoma_in_situ	Complex - frameshift
c.786_794CACCCAGGA>T; p.T263fs*3; 16:68810295-68810303	breast	carcinoma; ductal_carcinoma	Complex - frameshift
c.1251T>G; p.N417K; 16:68813426-68813426	skin	malignant_melanoma	Substitution - Missense
c.786_794CACCCAGGA>T; p.T263fs*3; 16:68810295-68810303	breast	carcinoma_in_situ; ductal_carcinoma_in_situ	Complex - frameshift
c.863A>T; p.D288V; 16:68811714-68811714	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.786_794CACCCAGGA>T; p.T263fs*3; 16:68810295-68810303	breast	carcinoma_in_situ; ductal_carcinoma_in_situ	Complex - frameshift
c.786_794CACCCAGGA>T; p.T263fs*3; 16:68810295-68810303	breast	carcinoma_in_situ; ductal_and_lobular_carcinoma_in_situ	Complex - frameshift
c.688-2A>G; p.?; 16:68810195-68810195	breast	carcinoma	Unknown
c.269_270GG>AA; p.R90Q; 16:68801775-68801776	skin	malignant_melanoma	Substitution - Missense
c.612_620delCTTTATTAT; p.F205_I207delFII; 16:68808773-68808781	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - In frame
c.1759G>T; p.D587Y; 16:68822048-68822048	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.728A>G; p.E243G; 16:68810237-68810237	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.493_510del18; p.E165_P170delENEKGP; 16:68808529-68808546	lung	carcinoma; adenocarcinoma	Deletion - In frame
c.1207_1208insC; p.N405fs*14; 16:68813382-68813383	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.2032_2033insT; p.T679fs*9; 16:68823494-68823495	breast	carcinoma	Insertion - Frameshift
c.377delC; p.P126fs*89; 16:68801883-68801883	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - Frameshift
c.2450C>T; p.A817V; 16:68833300-68833300	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1207_1208insC; p.N405fs*14; 16:68813382-68813383	stomach	carcinoma; diffuse_adenocarcinoma	Insertion - Frameshift
c.1532_1535delAGGA; p.Q511fs*10; 16:68815726-68815729	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift
c.475delC; p.P159fs*56; 16:68808511-68808511	breast	carcinoma	Deletion - Frameshift
c.377delC; p.P126fs*89; 16:68801883-68801883	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2450C>T; p.A817V; 16:68833300-68833300	breast	carcinoma	Substitution - Missense
c.1743_1744insCTGC; p.L583fs*6; 16:68822032-68822033	breast	carcinoma	Insertion - Frameshift
c.681A>G; p.T227T; 16:68808842-68808842	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.488_505del18; p.E165_P170delENEKGP; 16:68808524-68808541	breast	carcinoma	Deletion - In frame
c.1094T>C; p.V365A; 16:68812220-68812220	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2029delC; p.Q677fs*2; 16:68823491-68823491	breast	carcinoma; lobular_carcinoma	Deletion - Frameshift

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 copy number variations for various cancers

Top

COSMIC somatic mutation [Top]