High Confidence Variants
File name: {Sample_ID}_HighConfidenceVariants.csv
Contains the high confidence fusion and splice variant calls.
High confidence fusions are fusions targeted with passing filter (KeepFusions column displays True in the {Sample_ID}_Fusions.csv). There are a total of 55 genes targeted for fusion calls. The fusion is reported if at least one gene of the gene pair is in the targeted gene list.
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Each reported gene fusion has the following information: |
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Fusion Supporting Reads |
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The order of gene1/gene2 fusion reported in the Gene Fusion column does not indicate directionality of the fusion. For any fusion of interest, search for the gene pair in both orientations. |
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Semicolons denote fusions with overlapping genes. For example, Gene1;Gene2/Gene 3 indicates possible fusion event Gene1/Gene3 and Gene2/Gene3. |
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The fusion variants are sorted, in ascending order, by Gene 1, then by Gene 2, then by Gene 1 Breakpoint, and then by Gene 2 Breakpoint. |
High confidence splice variant calls are splice variants targeted by the panel (total of three genes) with a passing filter.
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Each reported splice variant has the following information: |
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Splice Supporting Reads |
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The splice variants are sorted by, in ascending order, Gene, then by Transcript, then by Breakpoint Start, and then by Breakpoint End. |