The reporting platform allows users to upload the files of somatic variants (.vcf), copy number alterations (tab-separated file) and structure variants (tab-separated file) from secondary (such as validation or orthogonal) sequencing, TricDB will invoke various variation annotation pipelines and workflows in the background to annotate and evaluate genomic features. Examples of input files are cnv_demo.txt sv_demo.txt snv_demo.vcf .
Single Nucleotide Variants
VCF file is the standard file format for storing variation data and is widely used in bioinformatics analysis. If users want the Single Nucleotide Variants (SNV) annotation results, please provide the VCF (File Format: VCF - GDC Docs (cancer.gov)) file of the sample.
Copy Number Alteration
Different pipelines have various outputs in CNV inferences (Bioinformatics Pipeline: Copy Number Variation Analysis - GDC Docs (cancer.gov)). We use GISTIC 2.0 (https://docs.cbioportal.org/5.1-data-loading/data-loading/file-formats#discrete-copy-number-data) format by default. Please download and view the example for details.
Structural Variant
We provide six different structural variant annotations, including DELETION, TRANSLOCATION, DUPLICATION, INSERTION, INVERSION and FUSION. If the structural variant is functional fusion, please provide two different gene partners of gene A and gene B, otherwise provide two identical genes. Please download and view the example for details.