{
    "id": "A4UGR9-1.2002.2002",
    "start_pos": 2002,
    "end_pos": 2002,
    "up_seq": "QSSKPSPTQHPVSMPVGGTY",
    "site_seq": "D",
    "down_seq": "LSGDFQKQTLLKQETKYSNK",
    "uniprot_canonical_ac": "A4UGR9-1",
    "species": [
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            "name": "Homo sapiens",
            "taxid": 9606,
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "A4UGR9",
                    "url": "https://www.uniprot.org/uniprot/A4UGR9"
                }
            ],
            "common_name": "Human"
        }
    ],
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        {
            "evidence": [
                {
                    "id": "rs113038974",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113038974"
                },
                {
                    "id": "rs113038974",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113038974"
                },
                {
                    "id": "rs113038974",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs113038974#frequency_tab"
                },
                {
                    "id": "rs113038974",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs113038974"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "sequence_org": "D",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLS->NLS).",
            "chr_id": "2",
            "chr_pos": "167247921G>",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "keywords": [
                "ebi",
                "germline"
            ]
        }
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        {
            "type": "snv",
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                    "start_pos": "1823",
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                    "start_pos": "1844",
                    "end_pos": "1844"
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                {
                    "start_pos": "1939",
                    "end_pos": "1939"
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                {
                    "start_pos": "2002",
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                {
                    "start_pos": "2030",
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                    "start_pos": "1989",
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                    "start_pos": "1994",
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}