Gene Name	HGNC ID	COSMIC_MutID	Primary site	Primary histology	AA-Mutation	Mutation Type	Genomic Position	FATHMM prediction	FATHMM score	Literature evidence
CHEK1	1925	COSM310084,	lung	carcinoma	p.K233T	Substitution - Missense	11:125635513-125635513,	PATHOGENIC	0.99746	22941188
CHEK1	1925	COSM39951,	central_nervous_system	glioma	p.E320K	Substitution - Missense	11:125644125-125644125,	PATHOGENIC	0.99698	18772396
CHEK1	1925	COSM6928766,	large_intestine	carcinoma	p.M377I	Substitution - Missense	11:125644541-125644541,	PATHOGENIC	0.99638	28481359
CHEK1	1925	COSM6976423,	central_nervous_system	glioma	p.G89R	Substitution - Missense	11:125627806-125627806,	PATHOGENIC	0.99608	28481359
CHEK1	1925	COSM6935424,	endometrium	carcinoma	p.E76*	Substitution - Nonsense	11:125627767-125627767,	PATHOGENIC	0.99267	28481359
CHEK1	1925	COSM310085,	lung	carcinoma	p.G169S	Substitution - Missense	11:125633243-125633243,	PATHOGENIC	0.99261	28481359
CHEK1	1925	COSM310085,	lung	carcinoma	p.G169S	Substitution - Missense	11:125633243-125633243,	PATHOGENIC	0.99261	22941188
CHEK1	1925	COSM6918135,	lung	carcinoma	p.?	Unknown	11:125644644-125644644,	PATHOGENIC	0.99244	28481359
CHEK1	1925	COSM6965963,	skin	malignant_melanoma	p.S212C	Substitution - Missense	11:125635449-125635449,	PATHOGENIC	0.99193	28481359
CHEK1	1925	COSM6971119,	pancreas	carcinoma	p.G123V	Substitution - Missense	11:125629404-125629404,	PATHOGENIC	0.98896	28481359
CHEK1	1925	COSM6913494,	skin	carcinoma	p.P172L	Substitution - Missense	11:125633253-125633253,	PATHOGENIC	0.98707	28481359
CHEK1	1925	COSM6969383,	lung	carcinoma	p.V374F	Substitution - Missense	11:125644530-125644530,	PATHOGENIC	0.98646	28481359
CHEK1	1925	COSM6972763,	lung	carcinoma	p.L171S	Substitution - Missense	11:125633250-125633250,	PATHOGENIC	0.98588	28481359
CHEK1	1925	COSM6914668,	skin	malignant_melanoma	p.V174A	Substitution - Missense	11:125633259-125633259,	PATHOGENIC	0.98588	28481359
CHEK1	1925	COSM6978248,	endometrium	carcinoma	p.E183*	Substitution - Nonsense	11:125633285-125633285,	PATHOGENIC	0.98442	28481359
CHEK1	1925	COSM6987475,	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	p.T382S	Substitution - Missense	11:125644555-125644555,	PATHOGENIC	0.98312	28481359
CHEK1	1925	COSM6943635,	large_intestine	carcinoma	p.L198F	Substitution - Missense	11:125633330-125633330,	PATHOGENIC	0.98191	28481359
CHEK1	1925	COSM6938925,	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	p.P321T	Substitution - Missense	11:125644128-125644128,	PATHOGENIC	0.98145	28481359
CHEK1	1925	COSM6938925,	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	p.P321T	Substitution - Missense	11:125644128-125644128,	PATHOGENIC	0.98145	28481359
CHEK1	1925	COSM6906318,	lung	carcinoma	p.D464Y	Substitution - Missense	11:125655279-125655279,	PATHOGENIC	0.97916	28481359
CHEK1	1925	COSM6931899,	central_nervous_system	glioma	p.?	Unknown	11:125627606-125627606,	PATHOGENIC	0.97884	28481359
CHEK1	1925	COSM6981594,	urinary_tract	carcinoma	p.D464N	Substitution - Missense	11:125655279-125655279,	PATHOGENIC	0.97578	28481359
CHEK1	1925	COSM6915652,	large_intestine	carcinoma	p.E134D	Substitution - Missense	11:125629438-125629438,	PATHOGENIC	0.97535	28481359
CHEK1	1925	COSM94076,	lung	carcinoma	p.N249H	Substitution - Missense	11:125637475-125637475,	PATHOGENIC	0.97498	20668451
CHEK1	1925	COSM6979429,	NS	carcinoma	p.P230S	Substitution - Missense	11:125635503-125635503,	PATHOGENIC	0.97455	28481359
CHEK1	1925	COSM5983245,	NS	carcinoma	p.L384F	Substitution - Missense	11:125644562-125644562,	PATHOGENIC	0.9733	28481359
CHEK1	1925	COSM6963341,	skin	carcinoma	p.K166T	Substitution - Missense	11:125633235-125633235,	PATHOGENIC	0.97329	28481359
CHEK1	1925	COSM6968486,	central_nervous_system	glioma	p.R74K	Substitution - Missense	11:125627762-125627762,	PATHOGENIC	0.96527	28481359
CHEK1	1925	COSM6915290,	large_intestine	carcinoma	p.L424P	Substitution - Missense	11:125653783-125653783,	PATHOGENIC	0.96282	28481359
CHEK1	1925	COSM6976835,	central_nervous_system	glioma	p.P321L	Substitution - Missense	11:125644129-125644129,	PATHOGENIC	0.9533	28481359
CHEK1	1925	COSM4990140,	skin	carcinoma	p.?	Unknown	11:125643791-125643791,	PATHOGENIC	0.95087	25589618
CHEK1	1925	COSM6948148,	urinary_tract	carcinoma	p.P302A	Substitution - Missense	11:125643881-125643881,	PATHOGENIC	0.94791	28481359
CHEK1	1925	COSM6919572,	liver	carcinoma	p.V412A	Substitution - Missense	11:125653747-125653747,	PATHOGENIC	0.94454	28481359
CHEK1	1925	COSM6952295,	large_intestine	carcinoma	p.R181I	Substitution - Missense	11:125633280-125633280,	PATHOGENIC	0.93561	28481359
CHEK1	1925	COSM3808717,	central_nervous_system	glioma	p.D8N	Substitution - Missense	11:125626790-125626790,	PATHOGENIC	0.93249	28481359
CHEK1	1925	COSM6922625,	stomach	carcinoma	p.I39T	Substitution - Missense	11:125627657-125627657,	PATHOGENIC	0.93102	28481359
CHEK1	1925	COSM4761052,	biliary_tract	carcinoma	p.T14N	Substitution - Missense	11:125626809-125626809,	PATHOGENIC	0.92911	28481359
CHEK1	1925	COSM6975328,	large_intestine	carcinoma	p.N59D	Substitution - Missense	11:125627716-125627716,	PATHOGENIC	0.92749	28481359
CHEK1	1925	COSM6917049,	cervix	carcinoma	p.D434H	Substitution - Missense	11:125653812-125653812,	PATHOGENIC	0.92067	28481359
CHEK1	1925	COSM4990141,	skin	carcinoma	p.G272E	Substitution - Missense	11:125643792-125643792,	PATHOGENIC	0.9185	25589618
CHEK1	1925	COSM6950132,	skin	malignant_melanoma	p.G341R	Substitution - Missense	11:125644188-125644188,	PATHOGENIC	0.9106	28481359
CHEK1	1925	COSM6960065,	large_intestine	carcinoma	p.A2V	Substitution - Missense	11:125626773-125626773,	PATHOGENIC	0.90433	28481359
CHEK1	1925	COSM6985179,	endometrium	carcinoma	p.R44C	Substitution - Missense	11:125627671-125627671,	PATHOGENIC	0.89875	28481359
CHEK1	1925	COSM6971266,	soft_tissue	gastrointestinal_stromal_tumour	p.S214T	Substitution - Missense	11:125635456-125635456,	PATHOGENIC	0.8951	28481359
CHEK1	1925	COSM6628264,	skin	malignant_melanoma	p.R322C	Substitution - Missense	11:125644131-125644131,	PATHOGENIC	0.88984	28481359
CHEK1	1925	COSM48303,	lung	carcinoma	p.L360F	Substitution - Missense	11:125644245-125644245,	PATHOGENIC	0.88525	18948947
CHEK1	1925	COSM6922411,	skin	malignant_melanoma	p.F344L	Substitution - Missense	11:125644199-125644199,	PATHOGENIC	0.86803	28481359
CHEK1	1925	COSM1352378,	stomach	carcinoma	p.R322H	Substitution - Missense	11:125644132-125644132,	PATHOGENIC	0.85518	26489445
CHEK1	1925	COSM6929002,	central_nervous_system	glioma	p.P276L	Substitution - Missense	11:125643804-125643804,	PATHOGENIC	0.8216	28481359
CHEK1	1925	COSM6926255,	skin	carcinoma	p.K406N	Substitution - Missense	11:125644628-125644628,	PATHOGENIC	0.81263	28481359
CHEK1	1925	COSM6942527,	NS	carcinoma	p.L438F	Substitution - Missense	11:125653826-125653826,	PATHOGENIC	0.79954	28481359
CHEK1	1925	COSM6975733,	kidney	carcinoma	p.Q80H	Substitution - Missense	11:125627781-125627781,	PATHOGENIC	0.77207	28481359
CHEK1	1925	COSM4990139,	skin	carcinoma	p.E7K	Substitution - Missense	11:125626787-125626787,	PATHOGENIC	0.7684	25589618
CHEK1	1925	COSM6914984,	lung	carcinoma	p.V67I	Substitution - Missense	11:125627740-125627740,	PATHOGENIC	0.71927	28481359
CHEK1	1925	COSM6920830,	lung	carcinoma	p.S307F	Substitution - Missense	11:125643897-125643897,	NEUTRAL	0.32086	28481359
CHEK1	1925	COSM4990142,	skin	carcinoma	p.P321P	Substitution - coding silent	11:125644130-125644130,	NEUTRAL	0.09069	25589618
CHEK1	1925	COSM6987728,	NS, endometrium, haematopoietic_and_lymphoid_tissue, lung, prostate, skin, small_intestine	carcinoma, lymphoid_neoplasm, malignant_melanoma	p.H122_G123>QV, p.I437M, p.K225fs*19, p.P332L, p.S326F, p.T226fs*14	Complex - compound substitution, Deletion - Frameshift, Substitution - Missense	11:125653823-125653823,	Info_not_available	0.51622, .59725, Info_not_available	28481359