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src/biocommons/gks-conversion-tool/converter.py

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@@ -12,20 +12,26 @@
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HL7V2 = {
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"VARIANT_NAME": "504",
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"DISCRETE_VARIANT": "505",
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# required - needed as 1, 2, 3, 4, X, Y, etc
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"CHROMOSOME": "510",
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"ALLELE_START": "511.1",
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"ALLELE_END": "511.2",
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"DNA_REGION": "513",
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# required
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"GENE_STUDIED": "514",
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"TRANSCRIPT_REFERENCE_SEQUENCE_ID": "516",
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# required
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"DNA_CHANGE": "518",
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# required
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"AMINO_ACID_CHANGE": "520",
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"MOLECULAR_CONSEQUENCE": "521",
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"PROTEIN_REFERENCE_SEQUENCE": "522",
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# required? - refseq for genomic change (ex: NC_000023.11)
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"GENOMIC_REFERENCE_SEQUENCE_ID": "524",
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# "AMPLIFICATION": "525", Not supporting in proof of concept - this is for CNVs and we are not handling those yet (only simply variants)
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"REFERENCE_ALLELE": "526",
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"OBSERVED_ALLELE": "527",
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# required
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"GENOMIC_DNA_CHANGE": "528",
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"CYTOGENETIC_LOCATION": "532",
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"PENETRANCE": "534",
@@ -37,6 +43,10 @@
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"STRUCTURAL_OUTER_END": "547.2",
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"COPY_NUMBER": "550",
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# "FUSED_GENES": "551", Not supported until Cat-VRS 2.0
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# hardcoded to "detected" for now - this is sample specific / unsure where to get from VA-Spec
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# required
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"VARIANT_ASSESSMENT": "552",
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# required
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"VARIANT_CLASSIFICATION": "553",
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"INTERPRETATION": "554",
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"MODE_OF_INHERITANCE": "560",

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