openvar/variantValidator

Issues

• Add VRS representations to the VV output

  #655 opened a month ago by Peter-J-Freeman
  2

• Collecting recently failed variants as a list. please add

  #545 opened a year ago by Peter-J-Freeman
  113

• Allow c. positions for intergenic variants in the context of a genomic reference sequence

  #652 opened 2 months ago by ifokkema
  0

• Alignment issue with NM_017680.6

  #651 opened 2 months ago by ifokkema
  0

• Add error codes to all warnings

  #637 opened 5 months ago by Peter-J-Freeman
  11

• Something fishy with NM_030582.4 — apparent regression

  #645 opened 3 months ago by ifokkema
  22

• Error on submitting specific sets of NM_016373.4 variants with uncertain locations

  #643 opened 3 months ago by John-F-Wagstaff
  13

• Internal Server Error: /accounts/confirm-email

  #546 opened a year ago by leicray
  1

• Variant in an interstitial undefined region fails validation

  #644 opened 4 months ago by leicray
  0

• Required information for ENST00000305799.8 is missing from the Universal Transcript Archive

  #629 opened 6 months ago by ifokkema
  2

• Update SimpleVariantFormatter to handle hybrid descriptions

  #639 opened 5 months ago by John-F-Wagstaff
  1

• gene2transcripts and gene2transcripts_v2 don't like HGNC IDs.

  #578 opened 10 months ago by ifokkema
  24

• variantValidator is not returning a correct gNomen

  #627 opened 5 months ago by RanWei1987
  10

• No warning that transcript version is not the most recent

  #624 opened 5 months ago by leicray
  1

• REST APIs broken for LOVD, depending on the internal method used to call it

  #628 opened 6 months ago by ifokkema
  2

• Use the "full" variant description for intronic variants

  #616 opened 7 months ago by ifokkema
  23

• An MD file which describes the HGVS formats we do and do not suppoort and what we are working on

  #618 opened 7 months ago by Peter-J-Freeman
  1

• Accept a VCF line

  #617 opened 7 months ago by Peter-J-Freeman
  0

• Add a method to link to a validation result in the web interface

  #596 opened 7 months ago by ifokkema
  21

• VV text entry at the top of each page

  #605 opened 7 months ago by Peter-J-Freeman
  11

• Add support for RefSeqFE and intergenic mappings to RefSeqGenes

  #600 opened 8 months ago by Peter-J-Freeman
  22

• Internal server error: "local variable 'result' referenced before assignment"

  #593 opened 8 months ago by ifokkema
  9

• LOVD associated improvement requests and bugs

  #603 opened 8 months ago by John-F-Wagstaff
  8

• Inconsistent query output

  #544 opened 8 months ago by holtgrewe
  2

• Protein-level variant validation is not trapping invalid single-letter amino acid codes

  #551 opened 8 months ago by leicray
  1

• LOVD Endpoint Internal Server Error

  #597 opened 8 months ago by nathandloria
  5

• Unsupported transcripts

  #595 opened 9 months ago by leicray
  5

• Transcript fusion r. description

  #594 opened 9 months ago by leicray
  3

• Incorrect warning for a deletion not conforming to the 3' rule

  #585 opened 10 months ago by leicray
  5

• `genes2transcripts` output was altered and all interactions now fail

  #579 opened 10 months ago by ifokkema
  3

• Combining allelic variants prior to generating the protein-level description

  #511 opened a year ago by leicray
  22

• Deletions in .r generate warning for auto-mapping to long form of .c (eg .r:6_8del -> .c:6_8delTTG) when the original is valid

  #584 opened 10 months ago by John-F-Wagstaff
  6

• Position based transcript search to be added to genes to transcript endpoint

  #582 opened 10 months ago by John-F-Wagstaff
  0

• gene2transcripts_v2: cds

  #565 opened a year ago by sophiaj16
  0

• Revisit development of code to handle less common syntaxes

  #556 opened a year ago by Peter-J-Freeman
  7

• Replace variants separated wth Pipe by a JSON structure

  #553 opened a year ago by Peter-J-Freeman
  15

• PostgreSQL requirement

  #560 opened a year ago by r0ue
  1

• gene2transcripts API: Gene Panel Functionality

  #516 opened a year ago by Sophiaj93
  4

• gene2transcripts API: Genome Assembly Filter

  #515 opened a year ago by Sophiaj93
  11

• Numbering the Ter position in a Protein

  #547 opened a year ago by Peter-J-Freeman
  2

• Stop codons not reported

  #535 opened a year ago by leicray
  1

• Genes to Transcripts filtering

  #532 opened a year ago by leicray
  0

• NG_053115.1:g.4659_4750delinsT causes server error

  #531 opened a year ago by leicray
  0

• Change logs (release notes)

  #527 opened a year ago by leicray
  5

• Variant causing server error

  #518 opened a year ago by Peter-J-Freeman
  11

• UCSC genome track displays the wrong transcript variant

  #517 opened a year ago by Peter-J-Freeman
  3

• Submitted variant description cannot be validated as it is located in a region of the reference sequence represented by base N and not GATC

  #512 opened a year ago by juliejurgens
  4

• Incorrect single-nucleotide duplication projection

  #510 opened a year ago by leicray
  6

• Incorrect reference sequence prefix case causes error

  #514 opened a year ago by leicray
  2

• NC_000007.14:g.149779575_149779577delinsT no longer mapping to NM_

  #513 opened a year ago by Peter-J-Freeman
  6