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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
                                "id": "MONDO:0009291",
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                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
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                            {
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                                "description": ""
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                                "resource": "MONDO",
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                            {
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
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                            {
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                ],
                "keywords": [
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            },
            {
                "evidence": [
                    {
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                ],
                "glycoeffect": [],
                "start_pos": 695,
                "end_pos": 695,
                "sequence_org": "Q",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881374",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q695",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
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                            {
                                "id": "MONDO:0009291",
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                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
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                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
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                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
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                                "description": ""
                            },
                            {
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                            {
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                            {
                                "id": "DOID:2748",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
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                "sequence_org": "G",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881380",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G697",
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                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "rs771211030",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771211030"
                    },
                    {
                        "id": "rs771211030",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771211030"
                    },
                    {
                        "id": "rs771211030",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs771211030#frequency_tab"
                    },
                    {
                        "id": "rs771211030",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs771211030"
                    },
                    {
                        "id": "rs771211030",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs771211030"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 697,
                "end_pos": 697,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "G",
                "sequence_mut": "S",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99881379",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "G697",
                "disease": [
                    {
                        "disease_id": "DOID:9256",
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                            {
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                            {
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                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "id": "MONDO:0005575",
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                                "id": "MONDO:0005575",
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                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "id": "MONDO:0005575",
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                            {
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                            }
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                            },
                            {
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                            },
                            {
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "description": ""
                            },
                            {
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
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                                "id": "232400",
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                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
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                            "resource": "Disease Ontology",
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                            {
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                            },
                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
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                            },
                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
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                            },
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            },
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                            },
                            {
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                            {
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                            },
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                            },
                            {
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                ],
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                "start_pos": 698,
                "end_pos": 698,
                "sequence_org": "I",
                "sequence_mut": "V",
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                "chr_id": "1",
                "chr_pos": "99881382",
                "ref_nt": "G",
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                "minor_allelic_frequency": "",
                "site_lbl": "I698",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
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                                "id": "MONDO:0009291",
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                                "description": ""
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
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                                "resource": "MONDO",
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                                "database": "AGR",
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                        ]
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                                "id": "DOID:2748",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "id": "MONDO:0009291",
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                                "description": "Glycogen storage disease 3"
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                "sequence_org": "R",
                "sequence_mut": "G",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
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                            {
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                "end_pos": 703,
                "sequence_org": "C",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881397",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "C703",
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                "sequence_mut": "Y",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "name": "amylo 1,6 glucosidase deficiency",
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                                "id": "MONDO:0009291",
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                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "description": ""
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                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "id": "MONDO:0009291",
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                            {
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                                "id": "MONDO:0005575",
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                            {
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "somatic",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "rs770913139",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770913139"
                    },
                    {
                        "id": "rs770913139",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770913139"
                    },
                    {
                        "id": "rs770913139",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs770913139"
                    },
                    {
                        "id": "rs770913139",
                        "database": "COSMIC",
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                ],
                "glycoeffect": [
                    "n-glyco-sequon-gain"
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                "start_pos": 70,
                "end_pos": 70,
                "subjects_tested": "2053",
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                "frequency": "0.0",
                "sequence_org": "P",
                "sequence_mut": "S",
                "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPT->NST).",
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                "chr_pos": "99861628",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "P70",
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                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3451",
                            "DOID:3149"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
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                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
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                    "cancer",
                    "disease",
                    "ebi"
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            },
            {
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                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
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                    {
                        "id": "",
                        "database": "COSMIC",
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                ],
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                "subjects_tested": "4799",
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                "sequence_mut": "*",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "chr_pos": "99881418",
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                "alt_nt": "T",
                "minor_allelic_frequency": "",
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                    {
                        "disease_id": "DOID:1324",
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                            "resource": "Disease Ontology",
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                        "synonyms": [
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": "A malignant neoplasm involving the lung."
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "cancer of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "Nonsmall cell lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "alveolar cell carcinoma",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
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                        ],
                        "unlinked_id_list": [
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                        ],
                        "evidence": [
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                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
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                        ]
                    }
                ],
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            },
            {
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                    {
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                ],
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                "end_pos": 710,
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                            {
                                "id": "DOID:3571",
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                            {
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                            },
                            {
                                "id": "DOID:3571",
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                            {
                                "id": "DOID:3571",
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                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:3571",
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                            {
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                            },
                            {
                                "id": "DOID:3571",
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                            },
                            {
                                "id": "DOID:3571",
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                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
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                                "name": "malignant neoplasm of liver, not specified as primary or secondary",
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                        ],
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                        ]
                    }
                ],
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            },
            {
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                    {
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            },
            {
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                    {
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                ],
                "glycoeffect": [],
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                "sequence_mut": "P",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                            "url": "http://disease-ontology.org/term/DOID:2748",
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                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
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                                "resource": "Disease Ontology",
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                            {
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                            {
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                            {
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            {
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                "sequence_org": "G",
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                "minor_allelic_frequency": "",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
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                    "germline",
                    "disease"
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            },
            {
                "evidence": [
                    {
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                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
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                    {
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                ],
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                "subjects_tested": "2053",
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                "alt_nt": "A",
                "minor_allelic_frequency": "",
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                    {
                        "disease_id": "DOID:4159",
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                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
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                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
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                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
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                            "DOID:3149"
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                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
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                ],
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                    "disease",
                    "ebi"
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            },
            {
                "evidence": [
                    {
                        "id": "rs2524652518",
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                            "id": "DOID:2748",
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                            "url": "http://disease-ontology.org/term/DOID:2748",
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                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
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                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
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                            {
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                                "url": "https://www.omim.org/entry/232400",
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                        ],
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                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
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                            {
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            },
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            {
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                    {
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                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
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                                "description": ""
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
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                                "description": ""
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
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                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1612",
                                "name": "primary breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast carcinoma",
                                "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, lobular, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "name": "familial breast cancer",
                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "name": "familial breast carcinoma",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
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                                "name": "familial cancer of the breast",
                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                            },
                            {
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                                "description": ""
                            },
                            {
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                            }
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                            {
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                            {
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                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                "evidence": [
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                "minor_allelic_frequency": "",
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                    "germline"
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            },
            {
                "evidence": [
                    {
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                        "database": "dbSNP",
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                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
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                ],
                "glycoeffect": [],
                "start_pos": 720,
                "end_pos": 720,
                "sequence_org": "V",
                "sequence_mut": "M",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
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                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "V720",
                "keywords": [
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                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P35573",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
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                ],
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                "frequency": "0.1",
                "sequence_org": "Y",
                "sequence_mut": "C",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                            "resource": "Disease Ontology",
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                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "malignant neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "malignant uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "uterine tumor",
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                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                        ],
                        "unlinked_id_list": [
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                            "DOID:4114",
                            "DOID:2021",
                            "DOID:9460"
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                            {
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            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
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                            "DOID:3149"
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                                "id": "4159",
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            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
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                                "resource": "MIM",
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                                "url": "https://www.omim.org/entry/232400"
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                            {
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                                "id": "DOID:2748",
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                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
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                            },
                            {
                                "id": "DOID:2748",
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                            },
                            {
                                "id": "DOID:2748",
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                            {
                                "id": "DOID:2748",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
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                            {
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                                "resource": "MIM",
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                                "id": "232400",
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                            {
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                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:363",
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                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                    {
                        "id": "rs542485403",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542485403"
                    },
                    {
                        "id": "rs542485403",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs542485403"
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                ],
                "glycoeffect": [],
                "start_pos": 731,
                "end_pos": 731,
                "sequence_org": "A",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881575",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "0.000392465",
                "site_lbl": "A731",
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                            {
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "name": "glycogenosis type III",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "name": "glycogenosis type 3",
                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            },
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                            {
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            {
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                "start_pos": 735,
                "end_pos": 735,
                "sequence_org": "H",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881587",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "H735",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99861639",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R73",
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            {
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                    {
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                ],
                "glycoeffect": [],
                "start_pos": 740,
                "end_pos": 740,
                "sequence_org": "H",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "99881602",
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                            {
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            },
                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            },
                            {
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            },
            {
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                "end_pos": 740,
                "sequence_org": "H",
                "sequence_mut": "Q",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881603",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "H740",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
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                        "evidence": [
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                                "url": "https://www.omim.org/entry/232400"
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                            {
                                "id": "2748",
                                "database": "AGR",
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                            }
                        ]
                    }
                ],
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                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
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                    },
                    {
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                ],
                "glycoeffect": [],
                "start_pos": 740,
                "end_pos": 740,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "H",
                "sequence_mut": "R",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "1",
                "chr_pos": "99881602",
                "ref_nt": "A",
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                "minor_allelic_frequency": "",
                "site_lbl": "H740",
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                            {
                                "id": "MONDO:0005575",
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                                "id": "MONDO:0005575",
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                            {
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                            {
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                            {
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                                "description": ""
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                            {
                                "id": "MONDO:0009291",
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                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
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                            {
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                                "url": "http://disease-ontology.org/term/DOID:2748",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "name": "AGL glycogen storage disease",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
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                            {
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                            },
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
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                            },
                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0009291",
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                            {
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                            },
                            {
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                            {
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            },
            {
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                "sequence_org": "Q",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99881605",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q741",
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                            {
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                            {
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
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                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0001056",
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                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca middle third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of distal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of lower third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of lower third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of middle third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of middle third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of upper third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of upper third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of abdominal esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of the middle third of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of abdominal oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of distal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of proximal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of the middle third of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Aerodigestive tract cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Escc, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal squamous cell carcinoma, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "gastric cardia adenocarcinoma, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MIM:133239",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133239",
                                "name": "Esophageal cancer",
                                "description": "Esophageal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "5041",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:5041"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            }
        ]
    }
}
