Gene Name	HGNC ID	COSMIC_MutID	Primary site	Primary histology	AA-Mutation	Mutation Type	Genomic Position	FATHMM prediction	FATHMM score	Literature evidence
CHEK2	16627	COSM6928283,	urinary_tract	carcinoma	p.S456L	Substitution - Missense	22:28695135-28695135,	PATHOGENIC	0.98882	28481359
CHEK2	16627	COSM5575437,	ovary	carcinoma	p.I448T	Substitution - Missense	22:28695159-28695159,	PATHOGENIC	0.98829	25846551
CHEK2	16627	COSM6980424,	lung	carcinoma	p.P426L	Substitution - Missense	22:28695225-28695225,	PATHOGENIC	0.98526	28481359
CHEK2	16627	COSM6980424,	lung	carcinoma	p.P426L	Substitution - Missense	22:28695225-28695225,	PATHOGENIC	0.98526	28481359
CHEK2	16627	COSM6909219,	large_intestine	carcinoma	p.V198L	Substitution - Missense	22:28724977-28724977,	PATHOGENIC	0.98459	28481359
CHEK2	16627	COSM6909219,	breast	carcinoma	p.V198L	Substitution - Missense	22:28724977-28724977,	PATHOGENIC	0.98459	28481359
CHEK2	16627	COSM6977635,	lung	carcinoma	p.Y390D	Substitution - Missense	22:28695801-28695801,	PATHOGENIC	0.98428	28481359
CHEK2	16627	COSM2935992,	kidney	Wilms_tumour	p.N186H	Substitution - Missense	22:28725013-28725013,	PATHOGENIC	0.98295	28825729
CHEK2	16627	COSM6944522,	endometrium	carcinoma	p.A190V	Substitution - Missense	22:28725000-28725000,	PATHOGENIC	0.98292	28481359
CHEK2	16627	COSM6971090,	breast	carcinoma	p.E188K	Substitution - Missense	22:28725007-28725007,	PATHOGENIC	0.9824	28481359
CHEK2	16627	COSM6930520,	biliary_tract	carcinoma	p.H163D	Substitution - Missense	22:28725082-28725082,	PATHOGENIC	0.98197	28481359
CHEK2	16627	COSM5048713,	oesophagus	carcinoma	p.V408L	Substitution - Missense	22:28695747-28695747,	PATHOGENIC	0.98155	24686850
CHEK2	16627	COSM6495451,	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	p.G443*	Substitution - Nonsense	22:28695175-28695175,	PATHOGENIC	0.98142	27534895
CHEK2	16627	COSM6942269,	urinary_tract	carcinoma	p.S356L	Substitution - Missense	22:28696929-28696929,	PATHOGENIC	0.97992	28481359
CHEK2	16627	COSM6938940,	large_intestine	carcinoma	p.?	Unknown	22:28695874-28695874,	PATHOGENIC	0.97979	28481359
CHEK2	16627	COSM6938940,	large_intestine	carcinoma	p.?	Unknown	22:28695874-28695874,	PATHOGENIC	0.97979	28481359
CHEK2	16627	COSM1579032,	large_intestine	carcinoma	p.L355P	Substitution - Missense	22:28696932-28696932,	PATHOGENIC	0.97791	18186519
CHEK2	16627	COSM6928491,	urinary_tract	carcinoma	p.E161Q	Substitution - Missense	22:28725088-28725088,	PATHOGENIC	0.97561	28481359
CHEK2	16627	COSM6924063,	skin	malignant_melanoma	p.G342D	Substitution - Missense	22:28696971-28696971,	PATHOGENIC	0.97513	28481359
CHEK2	16627	COSM1484132,	pleura	mesothelioma	p.E308Q	Substitution - Missense	22:28699924-28699924,	PATHOGENIC	0.9751	26928227
CHEK2	16627	COSM6935597,	endometrium	carcinoma	p.E360*	Substitution - Nonsense	22:28696918-28696918,	PATHOGENIC	0.97442	28481359
CHEK2	16627	COSM6919728,	soft_tissue	leiomyosarcoma	p.D347Y	Substitution - Missense	22:28696957-28696957,	PATHOGENIC	0.97442	28481359
CHEK2	16627	COSM1201032,	skin	malignant_melanoma	p.P182S	Substitution - Missense	22:28725025-28725025,	PATHOGENIC	0.96881	28481359
CHEK2	16627	COSM6588361,	urinary_tract	carcinoma	p.S379C	Substitution - Missense	22:28695833-28695833,	PATHOGENIC	0.96829	28481359
CHEK2	16627	COSM94077,	lung	carcinoma	p.G306R	Substitution - Missense	22:28699930-28699930,	PATHOGENIC	0.96682	28481359
CHEK2	16627	COSM6853359,	kidney	Wilms_tumour	p.A334T	Substitution - Missense	22:28699846-28699846,	PATHOGENIC	0.96682	28825729
CHEK2	16627	COSM94077,	oesophagus	carcinoma	p.G306R	Substitution - Missense	22:28699930-28699930,	PATHOGENIC	0.96682	28481359
CHEK2	16627	COSM6957718,	testis	germ_cell_tumour	p.G306E	Substitution - Missense	22:28699929-28699929,	PATHOGENIC	0.96682	28481359
CHEK2	16627	COSM94077,	lung	carcinoma	p.G306R	Substitution - Missense	22:28699930-28699930,	PATHOGENIC	0.96682	20668451
CHEK2	16627	COSM6979245,	lung	carcinoma	p.?	Unknown	22:28699938-28699938,	PATHOGENIC	0.96402	28481359
CHEK2	16627	COSM2935971,	testis	germ_cell_tumour	p.V395L	Substitution - Missense	22:28695786-28695786,	PATHOGENIC	0.96354	28481359
CHEK2	16627	COSM6945193,	urinary_tract	carcinoma	p.M1I	Substitution - Missense	22:28734719-28734719,	PATHOGENIC	0.96344	28481359
CHEK2	16627	COSM6947118,	breast	carcinoma	p.M381I	Substitution - Missense	22:28695826-28695826,	PATHOGENIC	0.96286	28481359
CHEK2	16627	COSM5046651,	oesophagus	carcinoma	p.?	Unknown	22:28725369-28725369,	PATHOGENIC	0.96172	24686850
CHEK2	16627	COSM6934638,	breast	carcinoma	p.Q27*	Substitution - Nonsense	22:28734643-28734643,	PATHOGENIC	0.96153	28481359
CHEK2	16627	COSM6974550,	skin	carcinoma	p.G102A	Substitution - Missense	22:28734417-28734417,	PATHOGENIC	0.9615	28481359
CHEK2	16627	COSM6930372,	urinary_tract	carcinoma	p.D296N	Substitution - Missense	22:28703527-28703527,	PATHOGENIC	0.96069	28481359
CHEK2	16627	COSM6919703,	urinary_tract	carcinoma	p.R145L	Substitution - Missense	22:28725253-28725253,	PATHOGENIC	0.95735	28481359
CHEK2	16627	COSM6933646,	lung	carcinoma	p.R117M	Substitution - Missense	22:28725337-28725337,	PATHOGENIC	0.95735	28481359
CHEK2	16627	COSM6929881,	lung	carcinoma	p.K365N	Substitution - Missense	22:28696901-28696901,	PATHOGENIC	0.95241	28481359
CHEK2	16627	COSM6962114,	skin	malignant_melanoma	p.R95*	Substitution - Nonsense	22:28734439-28734439,	PATHOGENIC	0.95167	28481359
CHEK2	16627	COSM6962114,	central_nervous_system	glioma	p.R95*	Substitution - Nonsense	22:28734439-28734439,	PATHOGENIC	0.95167	28481359
CHEK2	16627	COSM6977835,	urinary_tract	carcinoma	p.D203N	Substitution - Missense	22:28719471-28719471,	PATHOGENIC	0.94905	28481359
CHEK2	16627	COSM5575326,	ovary	carcinoma	p.V469M	Substitution - Missense	22:28694088-28694088,	PATHOGENIC	0.94768	25846551
CHEK2	16627	COSM6946491,	large_intestine	carcinoma	p.R145Q	Substitution - Missense	22:28725253-28725253,	PATHOGENIC	0.94659	28481359
CHEK2	16627	COSM4484007,	skin	malignant_melanoma	p.P92L	Substitution - Missense	22:28734447-28734447,	PATHOGENIC	0.94649	26343386
CHEK2	16627	COSM3693990,	kidney	Wilms_tumour	p.I157T	Substitution - Missense	22:28725099-28725099,	PATHOGENIC	0.9437	28825729
CHEK2	16627	COSM3693990,	kidney	Wilms_tumour	p.I157T	Substitution - Missense	22:28725099-28725099,	PATHOGENIC	0.9437	28825729
CHEK2	16627	COSM3693990,	kidney	Wilms_tumour	p.I157T	Substitution - Missense	22:28725099-28725099,	PATHOGENIC	0.9437	28825729
CHEK2	16627	COSM3693990,	ovary	carcinoma	p.I157T	Substitution - Missense	22:28725099-28725099,	PATHOGENIC	0.9437	25846551
CHEK2	16627	COSM3693990,	kidney	Wilms_tumour	p.I157T	Substitution - Missense	22:28725099-28725099,	PATHOGENIC	0.9437	28825729
CHEK2	16627	COSM6984996,	large_intestine	carcinoma	p.K465E	Substitution - Missense	22:28694100-28694100,	PATHOGENIC	0.94334	28481359
CHEK2	16627	COSM4103242,	ovary	carcinoma	p.R474H	Substitution - Missense	22:28694072-28694072,	PATHOGENIC	0.94258	25846551
CHEK2	16627	COSM5648771,	kidney	Wilms_tumour	p.R180C	Substitution - Missense	22:28725031-28725031,	PATHOGENIC	0.94187	28825729
CHEK2	16627	COSM5648771,	large_intestine	carcinoma	p.R180C	Substitution - Missense	22:28725031-28725031,	PATHOGENIC	0.94187	28481359
CHEK2	16627	COSM6945550,	lung	carcinoma	p.M304I	Substitution - Missense	22:28699934-28699934,	PATHOGENIC	0.94026	28481359
CHEK2	16627	COSM6968575,	biliary_tract	carcinoma	p.S50T	Substitution - Missense	22:28734573-28734573,	PATHOGENIC	0.93895	28481359
CHEK2	16627	COSM6963161,	skin	malignant_melanoma	p.H282Y	Substitution - Missense	22:28710008-28710008,	PATHOGENIC	0.93672	28481359
CHEK2	16627	COSM42871,	stomach	carcinoma	p.K373E	Substitution - Missense	22:28695852-28695852,	PATHOGENIC	0.93578	21097718
CHEK2	16627	COSM6940487,	urinary_tract	carcinoma	p.K464N	Substitution - Missense	22:28694101-28694101,	PATHOGENIC	0.93153	28481359
CHEK2	16627	COSM6921671,	prostate	carcinoma	p.F125V	Substitution - Missense	22:28725314-28725314,	PATHOGENIC	0.92368	28481359
CHEK2	16627	COSM6944094,	urinary_tract	carcinoma	p.Q487*	Substitution - Nonsense	22:28694034-28694034,	PATHOGENIC	0.91988	28481359
CHEK2	16627	COSM6944094,	skin	carcinoma	p.Q487*	Substitution - Nonsense	22:28694034-28694034,	PATHOGENIC	0.91988	28481359
CHEK2	16627	COSM5575258,	ovary	carcinoma	p.?	Unknown	22:28687988-28687988,	PATHOGENIC	0.91807	25846551
CHEK2	16627	COSM6938076,	urinary_tract	carcinoma	p.S50N	Substitution - Missense	22:28734573-28734573,	PATHOGENIC	0.918	28481359
CHEK2	16627	COSM6950938,	endometrium	carcinoma	p.E107K	Substitution - Missense	22:28734403-28734403,	PATHOGENIC	0.91456	28481359
CHEK2	16627	COSM6918028,	ovary	carcinoma	p.?	Unknown	22:28710005-28710005,	PATHOGENIC	0.91118	28481359
CHEK2	16627	COSM6918028,	kidney	carcinoma	p.?	Unknown	22:28710005-28710005,	PATHOGENIC	0.91118	28481359
CHEK2	16627	COSM6918028,	kidney	carcinoma	p.?	Unknown	22:28710005-28710005,	PATHOGENIC	0.91118	28481359
CHEK2	16627	COSM6918028,	kidney	carcinoma	p.?	Unknown	22:28710005-28710005,	PATHOGENIC	0.91118	28481359
CHEK2	16627	COSM6975955,	lung	carcinoma	p.A190S	Substitution - Missense	22:28725001-28725001,	PATHOGENIC	0.9055	28481359
CHEK2	16627	COSM6975955,	lung	carcinoma	p.A190S	Substitution - Missense	22:28725001-28725001,	PATHOGENIC	0.9055	28481359
CHEK2	16627	COSM726025,	lung	carcinoma	p.R346G	Substitution - Missense	22:28696960-28696960,	PATHOGENIC	0.90412	28481359
CHEK2	16627	COSM6931489,	urinary_tract	carcinoma	p.S187C	Substitution - Missense	22:28725009-28725009,	PATHOGENIC	0.90144	28481359
CHEK2	16627	COSM6977178,	urinary_tract	carcinoma	p.P88S	Substitution - Missense	22:28734460-28734460,	PATHOGENIC	0.89199	28481359
CHEK2	16627	COSM444827,	lung	carcinoma	p.R346C	Substitution - Missense	22:28696960-28696960,	PATHOGENIC	0.88182	28481359
CHEK2	16627	COSM444827,	large_intestine	carcinoma	p.R346C	Substitution - Missense	22:28696960-28696960,	PATHOGENIC	0.88182	28481359
CHEK2	16627	COSM6911456,	lung	carcinoma	p.E340K	Substitution - Missense	22:28696978-28696978,	PATHOGENIC	0.87241	28481359
CHEK2	16627	COSM5575453,	ovary	carcinoma	p.?	Unknown	22:28725370-28725370,	PATHOGENIC	0.86753	25846551
CHEK2	16627	COSM5423874,	prostate	carcinoma	p.A237T	Substitution - Missense	22:28711992-28711992,	PATHOGENIC	0.86673	28481359
CHEK2	16627	COSM6980312,	lung	carcinoma	p.A230P	Substitution - Missense	22:28712013-28712013,	PATHOGENIC	0.86456	28481359
CHEK2	16627	COSM6971092,	breast	carcinoma	p.H13N	Substitution - Missense	22:28734685-28734685,	PATHOGENIC	0.85134	28481359
CHEK2	16627	COSM6919730,	soft_tissue	leiomyosarcoma	p.R346S	Substitution - Missense	22:28696960-28696960,	PATHOGENIC	0.85008	28481359
CHEK2	16627	COSM6932264,	skin	carcinoma	p.Q100*	Substitution - Nonsense	22:28734424-28734424,	PATHOGENIC	0.84837	28481359
CHEK2	16627	COSM6853357,	kidney	Wilms_tumour	p.V200I	Substitution - Missense	22:28719480-28719480,	PATHOGENIC	0.8471	28825729
CHEK2	16627	COSM6976702,	central_nervous_system	glioma	p.D218N	Substitution - Missense	22:28719426-28719426,	PATHOGENIC	0.83958	28481359
CHEK2	16627	COSM2935997,	urinary_tract	carcinoma	p.R145W	Substitution - Missense	22:28725254-28725254,	PATHOGENIC	0.82244	28481359
CHEK2	16627	COSM1658935,	salivary_gland	carcinoma	p.V170I	Substitution - Missense	22:28725061-28725061,	PATHOGENIC	0.82181	23778141
CHEK2	16627	COSM6950150,	skin	malignant_melanoma	p.L348F	Substitution - Missense	22:28696952-28696952,	PATHOGENIC	0.80583	28481359
CHEK2	16627	COSM6953746,	large_intestine	carcinoma	p.W114*	Substitution - Nonsense	22:28725345-28725345,	PATHOGENIC	0.79829	28481359
CHEK2	16627	COSM6967245,	lung	carcinoma	p.H13Y	Substitution - Missense	22:28734685-28734685,	PATHOGENIC	0.79219	28481359
CHEK2	16627	COSM6947116,	breast	carcinoma	p.E457K	Substitution - Missense	22:28695133-28695133,	PATHOGENIC	0.78768	28481359
CHEK2	16627	COSM6928370,	soft_tissue	malignant_fibrous_histiocytoma-pleomorphic_sarcoma	p.K320R	Substitution - Missense	22:28699887-28699887,	PATHOGENIC	0.7836	28481359
CHEK2	16627	COSM6950344,	lung	carcinoma	p.G400V	Substitution - Missense	22:28695770-28695770,	PATHOGENIC	0.77781	28481359
CHEK2	16627	COSM2935994,	prostate	carcinoma	p.R180H	Substitution - Missense	22:28725030-28725030,	PATHOGENIC	0.76558	28481359
CHEK2	16627	COSM2935994,	urinary_tract	carcinoma	p.R180H	Substitution - Missense	22:28725030-28725030,	PATHOGENIC	0.76558	28481359
CHEK2	16627	COSM6948821,	breast	carcinoma	p.E239K	Substitution - Missense	22:28711986-28711986,	PATHOGENIC	0.72639	28481359
CHEK2	16627	COSM6628269,	urinary_tract	carcinoma	p.R137*	Substitution - Nonsense	22:28725278-28725278,	PATHOGENIC	0.72103	28481359
CHEK2	16627	COSM6869828,	endometrium	carcinoma	p.L226F	Substitution - Missense	22:28719402-28719402,	PATHOGENIC	0.70774	28481359
CHEK2	16627	COSM6869828,	skin	carcinoma	p.L226F	Substitution - Missense	22:28719402-28719402,	PATHOGENIC	0.70774	28481359
CHEK2	16627	COSM6982506,	lung	carcinoma	p.P128L	Substitution - Missense	22:28725304-28725304,	PATHOGENIC	0.70473	28481359
CHEK2	16627	COSM149275,	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	p.E84E	Substitution - coding silent	22:28734470-28734470,	NEUTRAL	0.4938	27534895
CHEK2	16627	COSM2936001,	urinary_tract	carcinoma	p.E86Q	Substitution - Missense	22:28734466-28734466,	NEUTRAL	0.42457	28481359
CHEK2	16627	COSM6984994,	large_intestine	carcinoma	p.K472N	Substitution - Missense	22:28694077-28694077,	NEUTRAL	0.29889	28481359
CHEK2	16627	COSM3424093,	penis	carcinoma	p.R132I	Substitution - Missense	22:28725292-28725292,	NEUTRAL	0.24611	28481359
CHEK2	16627	COSM6966185,	breast	carcinoma	p.R3Q	Substitution - Missense	22:28734714-28734714,	NEUTRAL	0.18404	28481359
CHEK2	16627	COSM6973501,	upper_aerodigestive_tract	carcinoma	p.A540V	Substitution - Missense	22:28687910-28687910,	NEUTRAL	0.17881	28481359
CHEK2	16627	COSM5575471,	ovary	carcinoma	p.S19*	Substitution - Nonsense	22:28734666-28734666,	NEUTRAL	0.13738	25846551
CHEK2	16627	COSM6920501,	lung	carcinoma	p.R181L	Substitution - Missense	22:28725027-28725027,	NEUTRAL	0.1026	28481359
CHEK2	16627	COSM6944169,	upper_aerodigestive_tract	carcinoma	p.K317*	Substitution - Nonsense	22:28699897-28699897,	NEUTRAL	0.09542	28481359
CHEK2	16627	COSM6956828,	lung	carcinoma	p.Q510H	Substitution - Missense	22:28689147-28689147,	NEUTRAL	0.06331	28481359
CHEK2	16627	COSM6056969,	large_intestine	carcinoma	p.P509S	Substitution - Missense	22:28689152-28689152,	NEUTRAL	0.06309	27023146
CHEK2	16627	COSM6056969,	large_intestine	carcinoma	p.P509S	Substitution - Missense	22:28689152-28689152,	NEUTRAL	0.06309	27023146
CHEK2	16627	COSM6056969,	large_intestine	carcinoma	p.P509S	Substitution - Missense	22:28689152-28689152,	NEUTRAL	0.06309	27023146
CHEK2	16627	COSM5575260,	ovary	carcinoma	p.N110K	Substitution - Missense	22:28725357-28725357,	NEUTRAL	0.02787	25846551
CHEK2	16627	COSM5575538,	ovary	carcinoma	p.A9T	Substitution - Missense	22:28734697-28734697,	NEUTRAL	0.01285	25846551
CHEK2	16627	COSM6983240,	endometrium	carcinoma	p.M46T	Substitution - Missense	22:28734585-28734585,	NEUTRAL	0.01277	28481359
CHEK2	16627	COSM5967258,	salivary_gland	carcinoma	p.T367fs*15	Deletion - Frameshift	22:28695869-28695869,	Info_not_available	Info_not_available	27334835
CHEK2	16627	COSM6906962, COSM6913044, COSM6914886, COSM6924183, COSM6934440, COSM6944113, COSM6946504, COSM6947423, COSM6979602, COSM6981472,	kidney, large_intestine, lung, oesophagus, skin, urinary_tract	carcinoma	p.D293fs*1, p.K255fs*20, p.L280fs*1, p.P90fs*20, p.P92F, p.Q336*, p.S56fs*5, p.T389fs*25, p.V314fs*6, p.Y329fs*12	Deletion - Frameshift, Insertion - Frameshift, Substitution - Missense, Substitution - Nonsense	22:28695805-28695805, 22:28699840-28699840, 22:28699860-28699861, 22:28699906-28699906, 22:28703536-28703537, 22:28710014-28710014, 22:28711939-28711939, 22:28734447-28734448, 22:28734453-28734453, 22:28734557-28734557,	Info_not_available	0.64497, Info_not_available	28481359
CHEK2	16627	COSM5047060,	oesophagus	carcinoma	p.V270I	Substitution - Missense	22:28710044-28710044,	Info_not_available	0.63548	24686850
CHEK2	16627	COSM1645492,	large_intestine	carcinoma	p.K255R	Substitution - Missense	22:28711937-28711937,	Info_not_available	0.58985	23700467
CHEK2	16627	COSM1578942,	breast	carcinoma	p.E239E	Substitution - coding silent	22:28711984-28711984,	Info_not_available	0.54737	18186519
CHEK2	16627	COSM5575452, COSM5575500,	ovary	carcinoma	p.D361E, p.Q336K	Substitution - Missense	22:28696913-28696913, 22:28699840-28699840,	Info_not_available	0.5083, .68593	25846551