Table 2.
Variant table
| Sample | Gene | Chromosome | HGVS DNA reference | HGVS protein reference | Variant type | Predicted effect | dbSNP/COSMIC ID | Genotype |
|---|---|---|---|---|---|---|---|---|
| POG 1 | BCOR | X | c.398_399insAC | p.Ala134fs | ins | Frameshift | Homozygous | |
| POG 1 | MECOM | 3 | c.1636C>T | p.Gln546* | snv | Truncating | Heterozygous | |
| POG 2 | BCOR | X | c.3961G>T | p.Glu1321* | snv | Truncating | Heterozygous | |
| POG 2 | NOTCH1 | 9 | c.2825G>A | p.Cys942Tyr | snv | Missense | Heterozygous | |
| POG 2 | NOTCH1 | 9 | c.4045_4052del GCTCGTAC | p.Ala1349fs | del | Frameshift | Heterozygous | |
| POG 4 | BAP1 | 3 | c.188C>G | p.Ser63Cys | snv | Missense | COSM96362 | Homozygous |
| POG 4 | FGFR2 | 10 | c.1144T>C | p.Cys382Arg | snv | Missense | rs121913474; COSM915496 | Heterozygous |
| POG 5 | ARID2 | 12 | c.2989C>T | p.Gln997* | snv | Truncating | Heterozygous | |
| POG 5 | BAP1 | 3 | c.374A>C | p.Glu125Ala | snv | Missense | Heterozygous | |
| POG 5 | BCOR | X | c.4685_4700del GCACTTGGGACTTCTA | p.Gly1562fs | del | Frameshift | Heterozygous | |
| POG 5 | JAK3 | 19 | c.1765G>A | p.Gly589Ser | snv | Missense | Heterozygous | |
| POG 5 | KRAS | 12 | c.34G>C | p.Gly12Arg | snv | Missense | rs121913530 | Heterozygous |
| POG 5 | SMARCA2 | 9 | c.3638G>C | p.Arg1213Pro | snv | Missense | Heterozygous | |
| POG 5 | SMARCB1 | 22 | c.110G>C | p.Arg37Pro | snv | Missense | Heterozygous | |
| POG 5 | STAT3 | 17 | c.1467T>A | p.Asn489Lys | snv | Missense | Heterozygous |
HGVS, Human Genome Variation Society; dbSNP, Single Nucleotide Polymorphism database; COSMIC, Catalogue of Somatic Mutations in Cancer; ins, insertion; snv, single-nucleotide variant; del, deletion.