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Gene ID
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Ensembl stable identifier for affected gene
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Gene symbol
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Common name for gene, e.g., from HGNC
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Transcript ID
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Ensembl stable identifier for affected transcript
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RefSeq ID
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NCBI RefSeq identifier for affected transcript
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CCDS ID
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Consensus coding sequence (CCDS) identifier uniting Havana, Ensembl, and NCBI
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Biotype
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GENCODE biotype of affected transcript
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cDNA coordinates
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Coordinates of input variant in unprocessed cDNA
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CDS coordinates
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Coordinates of input variant in processed coding sequence (CDS)
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Distance
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Distance to transcript if variant falls outside transcript boundaries
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Consequence type
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SO consequence type of input variant allele on transcript
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Exon
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Number(s) of affected exon(s)
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Intron
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Number(s) of affected intron(s)
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TSL
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Transcript Support Level (TSL) highlights well-supported and poorly supported transcript models
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APPRIS
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Annotation principle splice isoforms (APPRIS) is a system to annotate alternatively spliced transcripts based on a range of computational methods, assigning primary and alternative statuses to transcripts
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HGVS
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HGVS notations for input variant relative to the coding sequence
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Phenotype
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Flag indicating known association with a phenotype or disease
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