mitomap-small-variants-json

"mitomap":[ 
   { 
      "refAllele":"G",
      "altAllele":"A",
      "diseases":[ 
         "Bipolar disorder",
         "Melanoma"
      ],
      "hasHomoplasmy":false,
      "hasHeteroplasmy":true,
      "status":"Reported",
      "clinicalSignificance":"confirmed pathogenic",
      "scorePercentile":83.30,
      "numGenBankFullLengthSeqs":2,
      "pubMedIds":["2316527","6299878","6301949"],
      "isAlleleSpecific":true
   }
]

Field	Type	Notes
refAllele	string
altAllele	string
diseases	string array	associated diseases
hasHomoplasmy	boolean
hasHeteroplasmy	boolean
status	string	record status
clinicalSignificance	string	predicted pathogenicity
scorePercentile	float	MitoTIP score
numGenBankFullLengthSeqs	integer	# of GenBank full-length sequences
pubMedIds	string array
isAlleleSpecific	boolean	true when the current variant alternate allele matches the MITOMAP alternate allele