Chromosome	12	3	3
Position	21926358	27763350	27763770
Gene Name	KCNJ8	EOMES	EOMES
Reference	C	G	G
Number of reads with reference PROBAND	25	29	2
Alternative PROBAND	T	A	C
Number of reads with alternative PROBAND	20	21	3
Number of reads with reference MOTHER	50	46	4
Alternative MOTHER	None	none	C
Number of reads with alternative MOTHER	None	none	2
Number of reads with reference FATHER	46	17	7
Alternative FATHER	None	A	none
Number of reads with alternative FATHER	None		none
Mutation type	Nonsynonymous SNV	Nonsynonymous SNV	Nonsynonymous SNV
Refseq ID	NM_004982	NM_005442	NM_005442
Mutation DNA (HGVS nomenclature _c)	c.193G>A	c.436C>T	c.16C>G
Mutation DNA (HGVS nomenclature _p)	p.V65M	p.L146F	p.Q6E
Prediction from SIFT, Polyphen2*	SIFT 0.00, Polyphen2 0.998	SIFT 0.01, Polyphen2 0.16	SIFT 0.1, Polyphen2 0.929
Sanger Verification	YES	YES	YES

^*SIFT and PolyPhen2 scores are derived from Liu et al. 2011 [2]. SIFT scores <= 0.05 are predicted “damaging” and >0.05 are predicted to be “tolerated”. Polyphen2 scores >=0.2 and <0.85 are considered “possibly damaging” and >= 0.85 are predicted to be “probably damaging”.