Input Exonic Variants
Enter the position of your exonic variants in the box below. This tool currently only accepts chromosomal coordinates for human genome assembly hg18 (NCBI36) and assembly hg19 (NCBI37). We extract exon annotations from the Ensembl database (Version 54, for assembly hg18 and Version 55 for hg19). Unfortunately, annotation outside this database cannot be used.
Submission Format
One variant per line:
[Human chromosome] [variant chromosomal position*] [allele 1] -> [allele 2]
Example: (Please note that these are hg18 coordinates)
chr5 70283529 C->T
chr3 143757998 A->G
chr11 107692006 G->A
*Chromosomal positions should be in a 1-based not 0-based coordinate.
Please Note: An allele directionality is required (e.g. G→T). This could be the allele associated with normal splicing on the left and the allele suspected of modulating splicing on the right or if your variant is a common SNP then perhaps the ancestral to the derived allele. The allele to the left does not necessarily have to match the reference sequence of the genome assembly. The submitted alleles must be from the transcribed strand of the gene in which the variant resides.
Submission Limits: If you submit a list of more than 50 variants (without scoring for ectopic splice site activation), or more than 5 variants (scoring for ectopic splice site activation) please include a valid E-mail address and a link to the results will be E-mailed once the results have been processed. No E-mail is required for submissions of less than the above limit of variants.
The maximum number of variants allowed to be submitted on a single job is 200.
