All off-target and CNV variants were removed.

The following variants were removed because subject ID was not provided:

AGO3 c.1711A>C, p.Lys571Gln, chr1:36,034,293, heterozygous
ASAP3 c.405G>T, p.Gln135His, chr1:23,452,715 heterozygous
FCRL5 c.478G>A, p.Asp160Asn, chr1:157,544,912, heterozygous
FAAH c.298T>C, p.Tyr100His, chr1:46,402,193, heterozygous
FSTL3 c.760G>A, p.Glu254Lys, chr19:681,676, heterozygous
STAT1 c.2173C>T, p.Pro725Ser, chr2:190,974,895, heterozygous
TTC28 c.7345G>A, p.Gly2449Ser, chr22:27,982,322, heterozygous
TMEM184B c.700T>G, p.Phe234Val, chr22:38,225,511, heterozygous
NUP210 c.4105G>C, p.Val1369Leu, chr3:13,330,465, heterozygous
LAMB4 c.22T>C, p.Phe8Leu, chr7:108,123,143, heterozygous

TransVar was used to get genomic coordinates based on the provided cDNA ones.

The following variants were removed because no alternative base was given:of ambigous variant information:

RYR2,p.Thr1107Met, chr1:237,566,672, heterozygous, pat inh
STAB1 p.Asn998Asp, chr3:52,512,608 compound heterozygote
STAB1 p.Gly1462Arg, chr3:52,517,004 compound heterozygote
SCN10A p.Gly1662Ser, mat inh
POLRMT p.Phe813Cys, pat inh
RELN p.His1166Gln, pat inh
ATAD3A variants p.Leu77Val and p.Arg194Trp, in trans
BCL11B p.Pro679Leu, pat inh 
GABRA1 p.Ser25Asn, pat inh
TNXB p.Gly3453Arg
POLA1 p.Pro450Ser
NRXN1 p.Arg856Trp, mat inh, carrier status 
SCN4A p.Arg18His; pat inh
PRAMEF27 c.46G>A, p.Gly16Arg, chr1:13,053,614, heterozygous
NOD2 c.2938dupC, p.Leu980fs, chr16:50,729,867, heterozygous, maternally inherited
SPEN c.7380_7382delCCC, p.Pro2461del, chr1:15,933,618

The following variants were removed because TransVar failed to recognize the provided gene annotation:

IVD c.863C>T, Ala288Val, chr15: 40,414,967, consistent with known diagnosis of isovaleric acidemia
RIC1 c.293C>T, p.Thr98Ile, pat inh
RIC1 c.3454G>C, p.Ala1152Pro, mat inh
ANKFN1 c.906T>G, p.Tyr302*, chr17:56,374,710, heterozygous
FRMPD3 c.4844C>T, p.Ala1615Val