Chromosome	Position	Reference base	Call base	1000 Genomes frequency	dbSNP ID	Gene	Protein	Amino acid substitution	Call depth	Reference calls	Variant calls	A	T	C	G	Genome build	PolyPhen-2 prediction
1	13448084	G	A	0	rs6673767	ENSG00000204495 (PRAMEF13)	ENSP00000365302	P464L	7	1	6	6	0	0	0	GRCh37	BENIGN
1	145354441	A	G	0		ENSG00000163386 (NBPF10)	ENSP00000345684	H2790R	13	1	12	0	0	0	12	GRCh37	BENIGN
1	145359049	A	G	0		ENSG00000163386 (NBPF10)	ENSP00000345684	K2997E	8	0	8	0	0	0	8	GRCh37	BENIGN
3	107097102	G	A	0.0018		ENSG00000138483 (CCDC54)	ENSP00000261058	R223H	59	1	58	58	0	0	0	GRCh37	POSSIBLY DAMAGING
4	1389005	T	C	0	rs71614970	ENSG00000179979 (CRIPAK)	ENSP00000323978	C236R	11	1	10	0	0	10	0	GRCh37	BENIGN
5	70343936	C	Y	0		ENSG00000145736 (GTF2H2)	ENSP00000274400	T218T	129	76	53	0	53	0	0	GRCh37	(synonymous)
16	66551095	T	Y	0		ENSG00000166548 (TK2)	ENSP00000299697	T230A	92	50	42	0	0	41	1	GRCh37	PROBABLY DAMAGING
16	66551110	G	R	0		ENSG00000166548 (TK2)	ENSP00000299697	R225W	90	43	47	47	0	0	0	GRCh37	ERROR (unmatched amino acid)
19	501786	C	M	0	rs77264553	ENSG00000099866 (MADCAM1)	ENSP00000215637	P262Q	22	15	7	7	0	0	0	GRCh37	BENIGN
22	17264565	G	T	0	rs5748622	ENSG00000172967 (XKR3)	ENSP00000331704	H442N	62	0	62	0	62	0	0	GRCh37	POSSIBLY DAMAGING