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 External Resources

 link.spr...-x.pdfhttps://link.springer.com/content/pdf/10.1007/s00439-022-02444-x.pdf  Article fulltext

 gro-2/105609http://resolver.sub.uni-goettingen.de/purl?gro-2/105609  GRO.publications identifier

 9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606  NCBI taxonomy (human, Homo sapiens)

 0000-0002-6719-3447https://orcid.org/0000-0002-6719-3447  ORCID identifier (Barbara Vona)

 1/291https://mbexc.uni-goettingen.de/archive/1/291  Research Data Archive (supplemental material)

 03vek6s52https://ror.org/03vek6s52  ROR identifier (03vek6s52, Harvard University)

 057q4rt57https://ror.org/057q4rt57  ROR identifier (057q4rt57, Hospital for Sick Children)

 01pxwe438https://ror.org/01pxwe438  ROR identifier (01pxwe438, McGill University)

 04haebc03https://ror.org/04haebc03  ROR identifier (04haebc03, Memorial University of Newfoundland)

 05xy1nn52https://ror.org/05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

 020rzx487https://ror.org/020rzx487  ROR identifier (020rzx487, Sheba Medical Center)

 03qryx823https://ror.org/03qryx823  ROR identifier (03qryx823, Technion – Israel Institute of Technology)

 04mhzgx49https://ror.org/04mhzgx49  ROR identifier (04mhzgx49, Tel Aviv University)

 021ft0n22https://ror.org/021ft0n22  ROR identifier (021ft0n22, University Medical Center Göttingen)

 02grkyz14https://ror.org/02grkyz14  ROR identifier (02grkyz14, Western University)

 04ayype77https://ror.org/04ayype77  ROR identifier (04ayype77, Wolfson Medical Center)

 CVCL_0063https://scicrunch.org/resolver/CVCL_0063  SciCrunch identifier (RRID:CVCL_0063, HEK293T)

 SCR_023662https://scicrunch.org/resolver/SCR_023662  SciCrunch identifier (RRID:SCR_023662, AlphaFold Protein Structure Database)

 SCR_006442https://scicrunch.org/resolver/SCR_006442  SciCrunch identifier (RRID:SCR_006442, Bioconductor)

 SCR_013036https://scicrunch.org/resolver/SCR_013036  SciCrunch identifier (RRID:SCR_013036, cn.mops)

 SCR_001876https://scicrunch.org/resolver/SCR_001876  SciCrunch identifier (RRID:SCR_001876, GATK)

 SCR_014290https://scicrunch.org/resolver/SCR_014290  SciCrunch identifier (RRID:SCR_014290, GeneMapper)

 SCR_005181https://scicrunch.org/resolver/SCR_005181  SciCrunch identifier (RRID:SCR_005181, Human Splicing Finder)

 SCR_003253https://scicrunch.org/resolver/SCR_003253  SciCrunch identifier (RRID:SCR_003253, LUMPY)

 SCR_001247https://scicrunch.org/resolver/SCR_001247  SciCrunch identifier (RRID:SCR_001247, Mutation Surveyor)

 SCR_021830https://scicrunch.org/resolver/SCR_021830  SciCrunch identifier (RRID:SCR_021830, Maxent)

 SCR_005191https://scicrunch.org/resolver/SCR_005191  SciCrunch identifier (RRID:SCR_005191, SnpEff)

 SCR_013360https://scicrunch.org/resolver/SCR_013360  SciCrunch identifier (RRID:SCR_013360, Superlink)

 static-c...SM.pdfhttps://static-content.springer.com/esm/art%3A10.1007%2Fs00439-022-02444-x/MediaObjects/439_2022_2444_MOESM1_ESM.pdf  Supplemental material

 goeseek.gwdguser.de/studies/95https://goeseek.gwdguser.de/studies/95  Supplemental material (goeseek study)

 Q114960546https://www.wikidata.org/wiki/Q114960546  Wikidata ID