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. 2012 Apr 1;6(2):80–92. doi: 10.4161/fly.19695

Table 2. Detailed effect list from SnpEff.

Effect
Note
INTERGENIC
The variant is in an intergenic region
UPSTREAM
Upstream of a gene (default length: 5K bases)
UTR_5_PRIME
Variant hits 5′UTR region
UTR_5_DELETED
The variant deletes an exon which is in the 5′UTR of the transcript
START_GAINED
A variant in 5′UTR region produces a three base sequence that can be a START codon.
SPLICE_SITE_ACCEPTOR
The variant hits a splice acceptor site (defined as two bases before exon start, except for the first exon).
SPLICE_SITE_DONOR
The variant hits a Splice donor site (defined as two bases after coding exon end, except for the last exon).
START_LOST
Variant causes start codon to be mutated into a non-start codon.
SYNONYMOUS_START
Variant causes start codon to be mutated into another start codon.
CDS
The variant hits a CDS.
GENE
The variant hits a gene.
TRANSCRIPT
The variant hits a transcript.
EXON
The vairant hist an exon.
EXON_DELETED
A deletion removes the whole exon.
NON_SYNONYMOUS_CODING
Variant causes a codon that produces a different amino acid
SYNONYMOUS_CODING
Variant causes a codon that produces the same amino acid
FRAME_SHIFT
Insertion or deletion causes a frame shift
CODON_CHANGE
One or many codons are changed
CODON_INSERTION
One or many codons are inserted
CODON_CHANGE_PLUS_CODON_INSERTION
One codon is changed and one or many codons are inserted
CODON_DELETION
One or many codons are deleted
CODON_CHANGE_PLUS_CODON_DELETION
One codon is changed and one or more codons are deleted
STOP_GAINED
Variant causes a STOP codon
SYNONYMOUS_STOP
Variant causes stop codon to be mutated into another stop codon.
STOP_LOST
Variant causes stop codon to be mutated into a non-stop codon
INTRON
Variant hist and intron. Technically, hits no exon in the transcript.
UTR_3_PRIME
Variant hits 3′UTR region
UTR_3_DELETED
The variant deletes an exon which is in the 3′UTR of the transcript
DOWNSTREAM
Downstream of a gene (default length: 5K bases)
INTRON_CONSERVED
The variant is in a highly conserved intronic region
INTERGENIC_CONSERVED The variant is in a highly conserved intergenic region