Table 3

Newly predicted somatic mutations in hemimegalencephaly data.

Subject

Estimated α (standard deviation)

n.Total.Muta

Overlapping mutation

Novel mutation


n.Mutb

n.Exonc

n.Misd

Gene

n.Mutb

n.Exonc

n.Misd

Gene


HME-1563

77.9% (±0.006)

478

108

54

33

MTOR

370

209

147

HME-1565

71.3% (±0.003)

494

124

78

50

AKT3

370

72

43

HME-1573

64.0% (±0.017)

542

235

167

112

PIK3CA

307

301

185

HME-1574

83.4% (±0.005)

579

100

63

34

479

412

281

MTOR

HME-1620

84.8% (±0.004)

694

86

56

27

608

383

267


an.Total.Mut is the number of all called mutations.

bn.Mut is the number of (overlapping or novel) mutations. One mutation loci may be counted multiple times when more than one genetic product exists at the position.

cn.Exon is the number of mutations in an exon.

dn.Mis is the number of missense (or nonsense) mutations.

Kim et al. Genome Biology 2013 14:R90   doi:10.1186/gb-2013-14-8-r90

Open Data