Table 1.

De novo non-synonymous missense mutations.

Trio ID	Sexa	Gene	Chrb	Position	Nucleotide change (Ref > Obs)c	Amino acid change	PolyPhen-2d	SIFT	PROVEAN
4	F	SUPT6H	17	27028608	G > A	p.Asp1716Asn	probably	Damaging	Neutral
6	F	KRT34	17	39538037	G > A	p.Ala162Val	benign	Damaging	Neutral
7	F	SLTM	15	59179560	T > C	p.Glu421Gly	probably	Damaging	Neutral
8	M	TBL1XR1	3	176782736	G > C	p.Phe10Leu	possibly	Damaging	Deleterious
9	M	POLR3F	20	18455749	G > C	p.Ser116Thr	possibly	Tolerated	Neutral
12	F	FARS2	6	5431283	T > C	p.Ile261Thr	benign	Tolerated	Neutral
12	F	LEMD3	12	65633735	C > T	p.Arg650Cys	benign	Tolerated	Neutral
13	F	ABCD4	14	74759077	A > G	p.Ile344Thr	possibly	Damaging	Deleterious
15	M	DNAJA1	9	33036612	G > C	p.Val267Leu	possibly	Tolerated	Neutral

Using hg19 as the human reference genome.

^aSex; M = Male, F = Female.

^bChr = Chromosome.

^cRef = reference genome sequence, Obs = observed geneme sequence.

^dPolyPhen-2; probably = probably damaging, possibly = possibly damaging.

Degree of damaging “probably” > “possibly” > “benign”.