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Table 1 Confirmed somatic mutations

From: Somatic loss of function mutations in neurofibromin 1 and MYC associated factor X genes identified by exome-wide sequencing in a wild-type GIST case

Gene symbol UniProt accessiona Genomic coordinateb Exon Mutation (cDNA) Mutation (protein) Allele frequency Consensus effectc
NF1 P21359 chr17:29665119 44 c.6781_6782insTT p.His2240Leufs*4 100 n/ad
MAX P61244 chr14:65560437 3 c.160delC p.Gln54Lysfs*10 91 n/ad
RTN4 Q9NQC3 chr2:55200745 8 c.3486_3490delAGAT p.Asp1163Ilefs2 36 n/ad
CCDC66 A2RUB6 chr3:56650054 13 c.1818_1819insCCT p.Ser606_Lys607insPro 29 n/ad
MVD P53602 chr16:88725087 2 c.112T>A p.S38T 58 Deleterious
MAFA Q8NHW3 chr8:144511807 1 c.770A>T p.Q257L 56 Likely deleterious
RNF123 Q5XPI4 chr3:49751544 31 c.2947T>G p.Y983D 52 Likely deleterious
SPIN4 Q56A73 chrX:62570610 1 c.89G>T p.R30L 47 Likely deleterious
SELP P16109 chr1:169565261 12 c.2003G>T p.C668F 49 Likely deleterious
  1. a; bHg19; c; dNot applicable