Table 2.

Mapping of the datasets to UniProt protein sequences

dataset	no. of unique UniProt protein sequences	no. of variants mapped to a UniProt sequence	% variants mapped	maximum no. of variants mapped to a UniProt sequence	UniProt ID with maximum no. of variants	protein name	gene
DS1	17,571	378,706	84.9	1451	Q8WZ42	Titin	TTN
DS2	7230	18,660	78.8	71	P20929	Nebulin	NEB
DS3	1182	19,318	99.9	2294	P04637	Cellular tumor antigen p53	TP53
DS4	6541	15,880	81.6	56	P46013	Proliferation marker protein Ki-67	MKI67
DS5	1093	14,597	99.9	382	P00451	Coagulation factor VIII	F8
DS6	4895	13,811	78.4	71	P20929	Nebulin	NEB
DS7	953	17,514	99.9	2294	P04637	Cellular tumor antigen p53	TP53
DS8	4517	11,847	80.9	56	P46013	Proliferation marker protein Ki-67	MKI67
DS9	884	13,096	100.0	382	P00451	Coagulation factor VIII	F8
DS10	4997	10,882	83.3	27	Q86WI1	Fybrocystin-L	PKHD1L1
DS11	979	12,584	100.0	378	P00451	Coagulation factor VIII	F8
DS12	545	1288	80.2	14	Q13576	Ras GTPase-activating-like protein IQGAP2	IQGAP2
DS13	90	1301	100.0	100	P04839	Cytochrome b-245 heavy chain	CYBB
DS14	3799	7185	82.9	26	Q86WI1	Fybrocystin-L	PKHD1L1
DS15	785	7151	100.0	196	P00439	Phenylalanine-4-hydroxylase	PAH
DS16	424	848	80.5	11	Q8NEM0	Microcephalin	MCPH1
DS17	72	751	100.0	89	P04839	Cytochrome b-245 heavy chain	CYBB
DS18	3278	12,056	74.9	363	P00451	Coagulation factor VIII	F8
DS19	4129	10,154	98.9	1799	P04637	Cellular tumor antigen p53	TP53
DS20	3509	8662	97.9	137	P68871	Hemoglobin subunit beta	HBB
DS21	9038	39,735	98.4	460	P00451	Coagulation factor VIII	F8
DS22	8791	21,151	100.0	48	P20930, Q7Z442	Filaggrin, Polycystic kidney disease protein 1-like 2	FLG, PKD1L2
DS23	1852	22,196	100.0	472	P00451	Coagulation factor VIII	F8
DS24	12,735	75,042	100.0	1338	P04637	Cellular tumor antigen p53	TP53