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Table 2 Summary of SNVs observed in NF2, TRAF7, SMO, AKT1, and KLF4 genes

From: Characterization and comparison of genomic profiles between primary cancer cell lines and parent atypical meningioma tumors

Chromosome Gene Position Vartype/Effect Genotype Variant Biotype EXAC_AC EXAC_AN
Blood Tumor Early Late
chr22 NF2 30038152 SNP/intron_variant 0/1 0/1 0/1 0/1 c.364-39A > C Protein_coding 22478 121410
    SNP/intron_variant 0/1 0/1 0/1 0/1 c.115-39A > C Protein_coding 22,478 121410
    SNP/intron_variant 0/1 0/1 0/1 0/1 c.238-39A > C, Protein_coding 22,478 121410
    SNP/intron_variant 0/1 0/1 0/1 0/1 c.241-39A > C Protein_coding 22,478 121410
    DEL/intron_variant 0/1 0/1 0/1 0/2 c.599 + 56delT Protein_coding . .
    DEL/intron_variant 0/1 0/1 0/1 0/2 c.350 + 56delT Protein_coding . .
    DEL/intron_variant 0/1 0/1 0/1 0/2 c.473 + 56delT Protein_coding . .
    DEL/intron_variant 0/1 0/1 0/1 0/2 c.476 + 56delT Protein_coding . .
    DEL/intron_variant 0/1 0/1 0/1 0/2 c.447 + 13447delT Protein_coding . .
chr16 TRAF7 2201270 SNP/upstream_gene_variant 0/1 0/1 0/1 0/1 c.-12652G > C Protein_coding . .
   2203456 SNP/upstream_gene_variant 1/1 1/1 1/1 1/1 c.-10466T > C Protein_coding 120,133 121,104
   2223864 SNP/intron_variant 0/1 0/1 0/1 0/1 c.1135 + 27G > C Protein_coding 15,920 117,352
   2223868 SNP/intron_variant 0/1 0/1 0/1 0/1 c.1135 + 31A > C Protein_coding 15,557 117,050
   2223872 SNP/intron_variant 0/1 0/1 0/1 0/1 c.1135 + 35T > C Protein_coding . 120,252
chr14 AKT1 105258893 SNP/intron_variant 1/1 1/1 1/1 1/1 c.46 + 42T > C Protein_coding 99,675 121,090
chr9 KLF4 110249505 SNP/intron_variant 0/1 0/1 0/1 0/1 c.1100-32G > A Protein_coding
(p.Gly390Gly)
21,511 121,396
    SNP/synonymous_variant 0/1 0/1 0/1 0/1 c.1170G > A Protein_coding
(p.Gly390Gly)
21,511 121,396
chr7 SMO 128845018 SNP/intron_variant 0/1 0/1 0/1 0/1 c.538-26C > T Protein_coding 96,595 121,412
   128846328 SNP/synonymous_variant 0/1 0/1 0/1 0/1 c.1164G > C Protein_coding
(p.Gly388Gly)
96,810 121,412