Table 1. Eleven high-confidence^a non-synonymous variants identified by whole exome^b and targeted deep sequencing^c.

Gene	Chromosome	Protein change	Nucleotide change	Mutation type	QSS	Mutant ratio	Targeted sequencing
SETDB1	chr1	Y249X	747T>A	nonsense	48	0.93	validated
DYSF	chr2	R1604Q	4811G>A	missense	111	0.83	not done
ATP2C1	chr3	W460R	1378T>A	missense	99	0.86	not done
RAPGEF6	chr5	T325Sd	973A>T	missense	51	0.85	validated
ACTB	chr7	F262L	786C>G	missense	37	0.35	validated
CASD1	chr7	V361L	1081G>T	missense	39	0.62	not done
GOT1	chr10	T326I	977C>T	missense	61	0.92	validated
GIT2	chr12	T28M	83C>T	missense	43	0.88	not done
NOD2	chr16	Y240X	720T>A	nonsense	39	0.92	validated
TP53	chr17	R282Wd	844C>T	missense	37	0.96	validated
PSG1	chr19	E41Q	121G>C	missense	42	0.84	not done

^aHigh-confidence is defined by quality score (QSS) greater than 30.

^bWhole exome sequencing was done on SOLiD 5500 (Life Technologies) using the TargetSeq Exome Enrichment kit (Life Technologies) as previously described. [32]

^cTargeted deep sequencing for validation was done on Ion Torrent PGM using a customized AmpliSeq panel (Life Technologies) as previously described. [32] (Average coverage > 2000X).

^dThese mutations were confirmed by Sanger sequencing.