SOMATIC MUTATIONS
This section provides information for the somatic mutations described in the DETAILED GENOMIC ANALYSIS section, including SNVs and INDELs. Mutational burden analysis and mutation signature results are also reported in this section. Look in this section for details about mutation position, the sample in which mutations are detected, copy number and expression metrics.
SMALL SOMATIC MUTATIONS
SUMMARY OF SOMATIC EVENTS
# Non-synonymous protein coding SNVs [Truncating]
47[4]
# Protein coding indels [Frameshift]
12[10]
MUTATION SPECTRUM
SMALL MUTATIONS: GENOMIC DETAILS
VARIANTS OF POTENTIAL CLINICAL RELEVANCE
No somatic small mutations of potential clinical relevance were found from the analysis.
VARIANTS OF PROGNOSTIC OR DIAGNOSTIC RELEVANCE
No somatic small mutations of prognostic or diagnostic relevance were found from the analysis.
VARIANTS OF BIOLOGICAL RELEVANCE
No somatic small mutations of biological relevance were found from the analysis.
VARIANTS OF UNKNOWN SIGNIFICANCE IN KNOWN CANCER-RELATED GENES
Gene | Transcript | Protein Change | Location | Ref/Alt | Zygosity | Copy Change | LOH State | Ref/Alt DNA | Ref/Alt RNA | Expression (RPKM) | Fold Change vs. average | SARC %ile |
---|---|---|---|---|---|---|---|---|---|---|---|---|
CHD2 | ENST00000394196 | p.Q366fs | 15:93487686 | GC>G | het[1/2] | 0 | HET | 116/40 | 14/6 | 8.71 | -1.05 | 81 |
HDAC7 | ENST00000080059 | p.A60V | 12:48192647 | G>A | het[1/2] | 0 | HET | 63/15 | 6/1 | 3.52 | -1.72 | 0 |
KDM5C | ENST00000375401 | p.E1366* | X:53222976 | C>A | hom[1/1] | -1 | DLOH | 22/42 | 4/3 | 2.83 | -2.56 | 0 |
KIAA1549 | ENST00000440172 | p.E1802D | 7:138529108 | C>G | hom [2/2] | 0 | HET | 43/36 | na/na | 0.14 | -1.61 | 26 |
SMARCA1 | ENST00000371123 | p.A40V | X:128657229 | G>A | hom [1/1] | -1 | DLOH | 27/30 | 1/14 | 34.5 | 1.37 | 93 |
ZNF687 | ENST00000336715 | p.L743fs | 1:151261113 | TCCTG>T | het [1/2] | 0 | HET | 80/22 | 11/1 | 2.77 | -1.33 | 5 |