Table 1.
Clinically significant somatic tumor sequencing results
| Chromosome | Gene(s) | Type of alteration | Reference/Iioform | Nucleotide | Amino acid | Variant allele fraction | Comments |
|---|---|---|---|---|---|---|---|
| 17p | TP53 | Duplication | NM_001126114.2 | c.331_265dup | p.T123Wfs*12 | 0.427 | Also present in heterozygous state in patient's peripheral blood |
| Xp11.4-p11.22 | BCOR; KDM6A; ARAF; GATA1; KDM5C | Loss | n/a | n/a | n/a | n/a | |
| 1p36.22-q23.3 | MTOR; SPEN; SDHB; ARID1A; MPL; MUTYH; CDKN2C; JUN; JAK1 | Gain | n/a | n/a | n/a | n/a | |
| Chr 7 (whole chromosome) | Gain | n/a | n/a | n/a | n/a | ||
| Chr 17 (whole chromosome) | Loss of heterozygosity | n/a | n/a | n/a | n/a | Includes TP53 | |
| 17q24.2-q25.3 | PRKAR1A; FAM20A; RPTOR | Gain | n/a | n/a | n/a | n/a | |
| Chr 20 (whole chromosome) | Gain | n/a | n/a | n/a | n/a | ||
| Chr 21 (whole chromosome) | Gain | n/a | n/a | n/a | n/a |