KarchinLab / open-cravat

A modular annotation tool for genomic variants
MIT License
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Not main selected by default #160

Open EugeneEA opened 1 year ago

EugeneEA commented 1 year ago

Hi, it seems that the re-opening of the issue was lost, so I'm duplicating it here

https://github.com/KarchinLab/open-cravat/issues/130 """ one more question concerning MAIN the point is rs139416487 cravat returns as a primary transcript ENST00000240361.12 and all_mapping field:

{"TEX14": [["Q8IWB6", "p.Leu503Pro", "missense_variant", "ENST00000240361.12", "c.1508T>C"], ["Q8IWB6", "p.Leu497Pro", "missense_variant", "ENST00000349033.9", "c.1490T>C"], ["Q8IWB6", "p.Leu497Pro", "missense_variant", "ENST00000389934.7", "c.1490T>C"], ["", "", "NMD_transcript_variant,3_prime_UTR_variant", "ENST00000582740.1", "c.*1328T>C"]]}

But the MAIN here is ENST00000349033.9

Is it a bug or is there some logic behind it? """ Best, Eugene