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. 2020 Oct 30;11:507816. doi: 10.3389/fgene.2020.507816

TABLE 2.

The pathogenicity of the somatic mutations in spinal schwannoma by SIFT, PolyPhen-2, and MutationTaster.

Gene Symbol Effect Transcript:exon:CDS SIFT Polyphen2-HDIV Polyphen2-HVAR Mutation Taster Sample VAF
ATM Non-sense NM_000051:exon46:c.C6725A:p.S2242X NA NA NA D CHG004878 0.13
ATM Missense NM_000051:exon60:c.T8699C:p.L2900P D D D D CHG004882 0.13
ATM Missense NM_000051:exon24:c.T3458C:p.V1153A T B B N CHG004884 0.10
CHD4 Missense NM_001297553:exon9:c.C1460T T D B D CHG004878 0.13
CHD4 Missense NM_001297553:exon18:c.G2831A:p.G944E D D D D CHG004884 0.34
FAT1 Non-sense NM_005245:exon2:c.G370T:p.E124X A CHG004880 0.14
FAT1 Missense NM_005245:exon10:c.C6110T:p.T2037M D B B N CHG004888 0.18
KMT2D Missense NM_003482:exon34:c.G9484A:p.G3162S D B B N CHG004878 0.10
KMT2D Missense NM_003482:exon48:c.G15713A:p.R5238Q T D P D CHG004892 0.14
MED12 Missense NM_005120:exon3:c.C385A:p.L129I D D D D CHG004886 0.25
MED12 Missense NM_005120:exon28:c.G4037A:p.R1346H D P B D CHG004890 0.25
NF2 Missense NM_181830:exon14:c.G1517A:p.C506Y D D D D CHG004880 0.22
NF2 Non-sense NM_181830:exon10:c.C979T:p.Q327X A CHG004884 0.50
NF2 Inframe deletion NM_181830:exon6:c.513_557del:p.171_186del NA NA NA NA CHG004880 0.53
SUFU Missense NM_001178133:exon10:c.C1177T:p.R393W D D D D CHG004880 0.49
SUFU Missense NM_001178133:exon6:c.G691A:p.G231S D D D D CHG004886 0.11

D, deleterious; P, probably deleterious; B, benign; T, tolerant; A, disease causing automatic; N, polymorphism; NA, not available.