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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->SAT).",
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                        {
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                        {
                            "id": "rs1327304013",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1327304013"
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                    ],
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1062"
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                    ],
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            ]
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                        {
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                        },
                        {
                            "id": "rs1201540609",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1201540609"
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                    ]
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            ],
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1106"
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                    ],
                    "protein_name": "Ceramide synthase 4",
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        },
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                        {
                            "id": "rs780705243",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780705243"
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                        {
                            "id": "rs780705243",
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                    ]
                },
                {
                    "sequence_org": "N",
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                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NIS->SIS).",
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                        {
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                    ],
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                                {
                                    "id": "9256",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:9256"
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                        }
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                    ],
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            ]
        },
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1160"
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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": "rs201818846",
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                        {
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                        {
                            "id": "rs201818846",
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                        {
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                    ],
                    "protein_name": "Protein disulfide isomerase CRELD2",
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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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                },
                {
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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": "rs200775510",
                            "database": "1000Genomes",
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                        {
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                        {
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                        },
                        {
                            "id": "rs200775510",
                            "database": "gnomAD",
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                        {
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1232"
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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": "rs765206008",
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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": "rs373374751",
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                                {
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                                {
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                                {
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                                {
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                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0060256"
                                },
                                {
                                    "id": "0060256",
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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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                                {
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                        {
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                                {
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                                {
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                                    "database": "AGR",
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                                },
                                {
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                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0060256"
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                                {
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                        },
                        {
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                                {
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                                {
                                    "id": "0060256",
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                                {
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                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0060256"
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                        }
                    ]
                },
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                    "sequence_org": "N",
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                    "comment": "Germline mutation passed 0 out of 0 filters:",
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                            "id": "rs2047362243",
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                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2047362243"
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                        {
                            "id": "rs2047362243",
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                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs2047362243#frequency_tab"
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                        {
                            "id": "rs2047362243",
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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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                    "comment": "Loss of glycosylation site. Mildly reduces production of the mature, active enzyme.",
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                        {
                            "database": "UniProtKB",
                            "id": "Q8NCC3",
                            "url": "https://www.uniprot.org/uniprotkb/Q8NCC3"
                        },
                        {
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                            "id": "23958596",
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                    ],
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                    ],
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                                    "url": "https://www.alliancegenome.org/disease/DOID:9256"
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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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                        {
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                    ],
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            ]
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                    "sequence_org": "N",
                    "sequence_mut": "S",
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                    "chr_pos": "108481361",
                    "evidence": [
                        {
                            "id": "rs1401007749",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1401007749"
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                        {
                            "id": "rs1401007749",
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1431"
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                    ],
                    "protein_name": "Protein O-glucosyltransferase 3",
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            ]
        },
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                    "chr_pos": "62312441",
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                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O15230"
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                    ],
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                            "description": "A male reproductive organ cancer that is located_in the prostate.",
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                                {
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                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10283"
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                },
                {
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->KTT).",
                    "chr_id": "20",
                    "chr_pos": "62312439",
                    "evidence": [
                        {
                            "id": "rs759232226",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759232226"
                        },
                        {
                            "id": "rs759232226",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759232226"
                        },
                        {
                            "id": "rs759232226",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs759232226#frequency_tab"
                        },
                        {
                            "id": "rs759232226",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs759232226"
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                    ]
                }
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                {
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                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1441",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1441"
                        }
                    ],
                    "protein_name": "Laminin subunit alpha-5",
                    "gene_name": "LAMA5",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "length": 3695,
                    "chemical_mass": 399737.0
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            ]
        },
        {
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                {
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                    "sequence_mut": "I",
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                    "evidence": [
                        {
                            "id": "rs1161174930",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1161174930"
                        },
                        {
                            "id": "rs1161174930",
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                }
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                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1441",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1441"
                        }
                    ],
                    "protein_name": "Laminin subunit alpha-5",
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                    "length": 3695,
                    "chemical_mass": 399737.0
                }
            ]
        },
        {
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                {
                    "sequence_org": "N",
                    "sequence_mut": "S",
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                    "chr_pos": "62366962",
                    "evidence": [
                        {
                            "id": "rs575354316",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs575354316"
                        },
                        {
                            "id": "rs575354316",
                            "database": "1000Genomes",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs575354316"
                        }
                    ]
                }
            ],
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "O15230-1",
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                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1441",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1441"
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                    ],
                    "protein_name": "Laminin subunit alpha-5",
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                    "tax_name": "Homo sapiens",
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            ]
        },
        {
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                {
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                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1489",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1489"
                        }
                    ],
                    "protein_name": "Mannosyl-oligosaccharide glucosidase",
                    "gene_name": "MOGS",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "weight": 11.2,
                    "length": 837,
                    "chemical_mass": 91918.0
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            ]
        },
        {
            "start_pos": "246",
            "end_pos": "92",
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                {
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                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NKT->DKT).",
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                    "chr_pos": "222627956",
                    "evidence": [
                        {
                            "id": "Q5JRA6",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5JRA6"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:363",
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                            "description": "A female reproductive organ cancer that is located_in the uterus.",
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                            "evidence": [
                                {
                                    "id": "363",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:363"
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                            ]
                        }
                    ]
                }
            ],
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                {
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                        {
                            "database": "PubMed",
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                            "url": "https://glygen.org/publication/PubMed/29741879"
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                        {
                            "database": "GlyConnect",
                            "id": "1498",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1498"
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                    ],
                    "protein_name": "Transport and Golgi organization protein 1 homolog",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 213702.0
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            ]
        },
        {
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                {
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->SSS).",
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                    "chr_pos": "222627969",
                    "evidence": [
                        {
                            "id": "rs1662196131",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1662196131"
                        },
                        {
                            "id": "rs1662196131",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs1662196131#frequency_tab"
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                    ]
                }
            ],
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                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1498",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1498"
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                    ],
                    "protein_name": "Transport and Golgi organization protein 1 homolog",
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                    "chemical_mass": 213702.0
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            ]
        },
        {
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            "end_pos": "1790",
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                {
                    "sequence_org": "N",
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                    "chr_pos": "1252900",
                    "evidence": [
                        {
                            "id": "rs369321121",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369321121"
                        },
                        {
                            "id": "rs369321121",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369321121"
                        },
                        {
                            "id": "rs369321121",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs369321121#frequency_tab"
                        },
                        {
                            "id": "rs369321121",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs369321121"
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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": "rs1420286486",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420286486"
                        },
                        {
                            "id": "rs1420286486",
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                        {
                            "id": "rs1420286486",
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                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1420286486"
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                    ]
                }
            ],
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                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1520"
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                    ],
                    "protein_name": "Mucin-5B",
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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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                                    "url": "https://www.alliancegenome.org/disease/DOID:4159"
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                            ]
                        }
                    ]
                },
                {
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                        {
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                        {
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                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14594"
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                    ],
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                                {
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                    ],
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            ]
        },
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                    ],
                    "protein_name": "Neutral cholesterol ester hydrolase 1",
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            ]
        },
        {
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                    ],
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                        {
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                        },
                        {
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                        {
                            "id": "rs779187790",
                            "database": "gnomAD",
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                    ]
                }
            ],
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                        {
                            "database": "GlyConnect",
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1579"
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                    ],
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                        {
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                    ],
                    "protein_name": "Nuclear pore membrane glycoprotein 210",
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        {
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                        {
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                        {
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1585"
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                    ],
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                                {
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                },
                {
                    "sequence_org": "N",
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                        {
                            "id": "rs1848828022",
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                        {
                            "id": "rs1848828022",
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1586"
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                    ],
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            ]
        },
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                        {
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                        {
                            "id": "rs774542319",
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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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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1604"
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            ]
        },
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                        {
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                    ],
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                        {
                            "id": "rs79966207",
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                        {
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                        {
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                        {
                            "id": "rs79966207",
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                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs79966207"
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                    ],
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                                    "database": "AGR",
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                            ]
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                    ]
                },
                {
                    "sequence_org": "N",
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                        {
                            "id": "rs772506820",
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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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        {
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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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                        {
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                        {
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                },
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                        {
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                            "database": "TOPMed",
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                {
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                        {
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                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1726"
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                    ],
                    "protein_name": "Secreted frizzled-related protein 4",
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                    "length": 346,
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            ]
        },
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                {
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                        {
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                        },
                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1766"
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                    ],
                    "protein_name": "Sortilin-related receptor",
                    "gene_name": "SORL1",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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            ]
        },
        {
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                {
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                    "evidence": [
                        {
                            "id": "rs1863678903",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1863678903"
                        },
                        {
                            "id": "rs1863678903",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1863678903"
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                    ]
                }
            ],
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                {
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                        {
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                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1766"
                        }
                    ],
                    "protein_name": "Sortilin-related receptor",
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                    "tax_name": "Homo sapiens",
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            ]
        },
        {
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                {
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWS->KWS).",
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                    "chr_pos": "14079987",
                    "evidence": [
                        {
                            "id": "rs1383536185",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1383536185"
                        },
                        {
                            "id": "rs1383536185",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs1383536185#frequency_tab"
                        },
                        {
                            "id": "rs1383536185",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1383536185"
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                    ]
                }
            ],
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                {
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                        {
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                        },
                        {
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                            "id": "1768",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1768"
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                    ],
                    "protein_name": "Spondin-1",
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                    "tax_name": "Homo sapiens",
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            ]
        },
        {
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                {
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                        {
                            "id": "Q8NBK3",
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                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NBK3"
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                    ],
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                                {
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                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:5041"
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                            ]
                        },
                        {
                            "disease_id": "DOID:10534",
                            "name": "stomach cancer",
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                            "evidence": [
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                },
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
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                            ]
                        }
                    ]
                }
            ],
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                {
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                        {
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                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
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                            "id": "1772",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1772"
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                    ],
                    "protein_name": "Formylglycine-generating enzyme",
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            ]
        },
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                {
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                        {
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                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1212387175"
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                        {
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                            "database": "TOPMed",
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                        {
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                            "database": "gnomAD",
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                    ]
                },
                {
                    "sequence_org": "N",
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                        {
                            "id": "rs2051287519",
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                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2051287519"
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                        {
                            "id": "rs2051287519",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs2051287519"
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                    ]
                }
            ],
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                {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1807"
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                    ],
                    "protein_name": "Thrombospondin type-1 domain-containing protein 4",
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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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                        {
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                    ]
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            ],
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                {
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                    "comment": "Reduces N-glycosylation.",
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                            "url": "https://www.uniprot.org/uniprotkb/O14656"
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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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                        {
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            ],
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                    ],
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        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1858"
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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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                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
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                            "id": "1884",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1884"
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                    ],
                    "protein_name": "Endosome/lysosome-associated apoptosis and autophagy regulator 1",
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            ]
        },
        {
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            "end_pos": "991",
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                        {
                            "id": "rs1653884098",
                            "database": "ENSEMBL",
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                    ]
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            ],
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                {
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1884"
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                    ],
                    "protein_name": "Endosome/lysosome-associated apoptosis and autophagy regulator 1",
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                    "tax_common_name": "Human",
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                    "length": 1013,
                    "chemical_mass": 111382.0
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            ]
        },
        {
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                {
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                        {
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                        },
                        {
                            "database": "GlyConnect",
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1897"
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                    ],
                    "protein_name": "V-set domain-containing T-cell activation inhibitor 1",
                    "gene_name": "VTCN1",
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                    "tax_name": "Homo sapiens",
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            ]
        },
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                    "chr_pos": "4382377",
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                            "id": "Q6EMK4",
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                        {
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                                {
                                    "id": "1612",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:1612"
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                            ]
                        }
                    ]
                },
                {
                    "sequence_org": "N",
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                        {
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                    ],
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                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.",
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                            "evidence": [
                                {
                                    "id": "9256",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:9256"
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                        },
                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/670"
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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": "rs560661191",
                            "database": "ExAC",
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                        {
                            "id": "rs560661191",
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                        },
                        {
                            "id": "rs560661191",
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                    ],
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                                {
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                },
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                        {
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                            "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.",
                            "url": "http://disease-ontology.org/term/DOID:3413",
                            "evidence": [
                                {
                                    "id": "3413",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:3413"
                                },
                                {
                                    "id": "3413",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:3413"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:3413",
                            "name": "alpha-mannosidosis",
                            "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.",
                            "url": "http://disease-ontology.org/term/DOID:3413",
                            "evidence": [
                                {
                                    "id": "3413",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:3413"
                                },
                                {
                                    "id": "3413",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:3413"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:3413",
                            "name": "alpha-mannosidosis",
                            "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.",
                            "url": "http://disease-ontology.org/term/DOID:3413",
                            "evidence": [
                                {
                                    "id": "3413",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:3413"
                                },
                                {
                                    "id": "3413",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:3413"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:3413",
                            "name": "alpha-mannosidosis",
                            "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.",
                            "url": "http://disease-ontology.org/term/DOID:3413",
                            "evidence": [
                                {
                                    "id": "3413",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:3413"
                                },
                                {
                                    "id": "3413",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:3413"
                                }
                            ]
                        }
                    ]
                },
                {
                    "sequence_org": "N",
                    "sequence_mut": "T",
                    "comment": "Germline mutation passed 0 out of 0 filters:",
                    "chr_id": "19",
                    "chr_pos": "12658437",
                    "evidence": [
                        {
                            "id": "rs771528526",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771528526"
                        },
                        {
                            "id": "rs771528526",
                            "database": "1000Genomes",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs771528526"
                        },
                        {
                            "id": "rs771528526",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771528526"
                        },
                        {
                            "id": "rs771528526",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs771528526#frequency_tab"
                        },
                        {
                            "id": "rs771528526",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs771528526"
                        }
                    ]
                }
            ],
            "uniprot_canonical_ac": "O00754-1",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "O00754-1",
                    "start_pos": 367,
                    "end_pos": 367,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "775",
                            "url": "https://glyconnect.expasy.org/browser/proteins/775"
                        }
                    ],
                    "protein_name": "Lysosomal alpha-mannosidase",
                    "gene_name": "MAN2B1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "weight": 29.9,
                    "length": 1011,
                    "chemical_mass": 113744.0
                }
            ]
        },
        {
            "start_pos": "692",
            "end_pos": "9",
            "site_lbl": "Asn692",
            "weight": 0.0,
            "snv": [
                {
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 0 out of 0 filters:",
                    "chr_id": "19",
                    "chr_pos": "12650193",
                    "evidence": [
                        {
                            "id": "rs376110556",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376110556"
                        },
                        {
                            "id": "rs376110556",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs376110556#frequency_tab"
                        },
                        {
                            "id": "rs376110556",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs376110556"
                        }
                    ]
                }
            ],
            "uniprot_canonical_ac": "O00754-1",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "O00754-1",
                    "start_pos": 692,
                    "end_pos": 692,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "775",
                            "url": "https://glyconnect.expasy.org/browser/proteins/775"
                        }
                    ],
                    "protein_name": "Lysosomal alpha-mannosidase",
                    "gene_name": "MAN2B1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "weight": 29.9,
                    "length": 1011,
                    "chemical_mass": 113744.0
                }
            ]
        },
        {
            "start_pos": "247",
            "end_pos": "98",
            "site_lbl": "Asn247",
            "weight": 0.0,
            "snv": [
                {
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->SGT).",
                    "chr_id": "6",
                    "chr_pos": "73759010",
                    "evidence": [
                        {
                            "id": "rs751957646",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751957646"
                        },
                        {
                            "id": "rs751957646",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751957646"
                        },
                        {
                            "id": "rs751957646",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs751957646#frequency_tab"
                        },
                        {
                            "id": "rs751957646",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs751957646"
                        }
                    ]
                }
            ],
            "uniprot_canonical_ac": "Q6YHK3-1",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q6YHK3-1",
                    "start_pos": 247,
                    "end_pos": 247,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "795",
                            "url": "https://glyconnect.expasy.org/browser/proteins/795"
                        }
                    ],
                    "protein_name": "CD109 antigen",
                    "gene_name": "CD109",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "weight": 45.3,
                    "length": 1445,
                    "chemical_mass": 161689.0
                }
            ]
        },
        {
            "start_pos": "287",
            "end_pos": "98",
            "site_lbl": "Asn287",
            "weight": 0.0,
            "snv": [
                {
                    "sequence_org": "N",
                    "sequence_mut": "H",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NGS->HGS).",
                    "chr_id": "6",
                    "chr_pos": "73762744",
                    "evidence": [
                        {
                            "id": "Q6YHK3",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6YHK3"
                        },
                        {
                            "id": "rs1773682234",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1773682234"
                        },
                        {
                            "id": "rs1773682234",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs1773682234"
                        },
                        {
                            "id": "rs1773682234",
                            "database": "COSMIC",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1773682234"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:363",
                            "name": "uterine cancer",
                            "description": "A female reproductive organ cancer that is located_in the uterus.",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "evidence": [
                                {
                                    "id": "363",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:363"
                                }
                            ]
                        }
                    ]
                }
            ],
            "uniprot_canonical_ac": "Q6YHK3-1",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q6YHK3-1",
                    "start_pos": 287,
                    "end_pos": 287,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "795",
                            "url": "https://glyconnect.expasy.org/browser/proteins/795"
                        }
                    ],
                    "protein_name": "CD109 antigen",
                    "gene_name": "CD109",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "weight": 45.3,
                    "length": 1445,
                    "chemical_mass": 161689.0
                }
            ]
        },
        {
            "start_pos": "337",
            "end_pos": "98",
            "site_lbl": "Asn337",
            "weight": 0.0,
            "uniprot_canonical_ac": "Q6YHK3-1",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q6YHK3-1",
                    "start_pos": 337,
                    "end_pos": 337,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "795",
                            "url": "https://glyconnect.expasy.org/browser/proteins/795"
                        }
                    ],
                    "protein_name": "CD109 antigen",
                    "gene_name": "CD109",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "weight": 45.3,
                    "length": 1445,
                    "chemical_mass": 161689.0
                }
            ]
        },
        {
            "start_pos": "160",
            "end_pos": "216",
            "site_lbl": "Asn160",
            "weight": 0.0,
            "snv": [
                {
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->SGT).",
                    "chr_id": "20",
                    "chr_pos": "24971519",
                    "evidence": [
                        {
                            "id": "rs149732546",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149732546"
                        },
                        {
                            "id": "rs149732546",
                            "database": "1000Genomes",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149732546"
                        },
                        {
                            "id": "rs149732546",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149732546"
                        },
                        {
                            "id": "rs149732546",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs149732546#frequency_tab"
                        },
                        {
                            "id": "rs149732546",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs149732546"
                        }
                    ]
                }
            ],
            "uniprot_canonical_ac": "Q9HDC9-1",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q9HDC9-1",
                    "start_pos": 160,
                    "end_pos": 160,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "797",
                            "url": "https://glyconnect.expasy.org/browser/proteins/797"
                        },
                        {
                            "database": "PubMed",
                            "id": "24721674",
                            "url": "https://glygen.org/publication/PubMed/24721674"
                        }
                    ],
                    "protein_name": "Adipocyte plasma membrane-associated protein",
                    "gene_name": "APMAP",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "weight": 25.1,
                    "length": 416,
                    "chemical_mass": 46480.0
                }
            ]
        },
        {
            "start_pos": "196",
            "end_pos": "216",
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            "weight": 0.0,
            "snv": [
                {
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMS->KMS).",
                    "chr_id": "20",
                    "chr_pos": "24970322",
                    "evidence": [
                        {
                            "id": "rs2122491348",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2122491348"
                        },
                        {
                            "id": "rs2122491348",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs2122491348"
                        }
                    ]
                }
            ],
            "uniprot_canonical_ac": "Q9HDC9-1",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q9HDC9-1",
                    "start_pos": 196,
                    "end_pos": 196,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "797",
                            "url": "https://glyconnect.expasy.org/browser/proteins/797"
                        }
                    ],
                    "protein_name": "Adipocyte plasma membrane-associated protein",
                    "gene_name": "APMAP",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "weight": 25.1,
                    "length": 416,
                    "chemical_mass": 46480.0
                }
            ]
        },
        {
            "start_pos": "503",
            "end_pos": "9",
            "site_lbl": "Asn503",
            "weight": 0.0,
            "snv": [
                {
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 0 out of 0 filters:",
                    "chr_id": "17",
                    "chr_pos": "42543515",
                    "evidence": [
                        {
                            "id": "rs781603010",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781603010"
                        },
                        {
                            "id": "rs781603010",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781603010"
                        },
                        {
                            "id": "rs781603010",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs781603010"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:0110178",
                            "name": "Charcot-Marie-Tooth disease axonal type 2V",
                            "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.",
                            "url": "http://disease-ontology.org/term/DOID:0110178",
                            "evidence": [
                                {
                                    "id": "616491",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/616491"
                                },
                                {
                                    "id": "0110178",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110178"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110178",
                            "name": "Charcot-Marie-Tooth disease axonal type 2V",
                            "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.",
                            "url": "http://disease-ontology.org/term/DOID:0110178",
                            "evidence": [
                                {
                                    "id": "616491",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/616491"
                                },
                                {
                                    "id": "0110178",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110178"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110178",
                            "name": "Charcot-Marie-Tooth disease axonal type 2V",
                            "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.",
                            "url": "http://disease-ontology.org/term/DOID:0110178",
                            "evidence": [
                                {
                                    "id": "616491",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/616491"
                                },
                                {
                                    "id": "0110178",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110178"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111394",
                            "name": "mucopolysaccharidosis type IIIB",
                            "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.",
                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "evidence": [
                                {
                                    "id": "0009656",
                                    "database": "MONDO",
                                    "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                                },
                                {
                                    "id": "252920",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/252920"
                                },
                                {
                                    "id": "4669",
                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/4669#disease"
                                },
                                {
                                    "id": "0111394",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111394",
                            "name": "mucopolysaccharidosis type IIIB",
                            "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.",
                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "evidence": [
                                {
                                    "id": "0009656",
                                    "database": "MONDO",
                                    "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                                },
                                {
                                    "id": "252920",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/252920"
                                },
                                {
                                    "id": "4669",
                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/4669#disease"
                                },
                                {
                                    "id": "0111394",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111394",
                            "name": "mucopolysaccharidosis type IIIB",
                            "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.",
                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "evidence": [
                                {
                                    "id": "0009656",
                                    "database": "MONDO",
                                    "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                                },
                                {
                                    "id": "252920",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/252920"
                                },
                                {
                                    "id": "4669",
                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/4669#disease"
                                },
                                {
                                    "id": "0111394",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                                }
                            ]
                        }
                    ]
                },
                {
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 0 out of 0 filters:",
                    "chr_id": "17",
                    "chr_pos": "42543514",
                    "evidence": [
                        {
                            "id": "rs757325483",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757325483"
                        },
                        {
                            "id": "rs757325483",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757325483"
                        },
                        {
                            "id": "rs757325483",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs757325483#frequency_tab"
                        },
                        {
                            "id": "rs757325483",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs757325483"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:0110178",
                            "name": "Charcot-Marie-Tooth disease axonal type 2V",
                            "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.",
                            "url": "http://disease-ontology.org/term/DOID:0110178",
                            "evidence": [
                                {
                                    "id": "616491",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/616491"
                                },
                                {
                                    "id": "0110178",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110178"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110178",
                            "name": "Charcot-Marie-Tooth disease axonal type 2V",
                            "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.",
                            "url": "http://disease-ontology.org/term/DOID:0110178",
                            "evidence": [
                                {
                                    "id": "616491",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/616491"
                                },
                                {
                                    "id": "0110178",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110178"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110178",
                            "name": "Charcot-Marie-Tooth disease axonal type 2V",
                            "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.",
                            "url": "http://disease-ontology.org/term/DOID:0110178",
                            "evidence": [
                                {
                                    "id": "616491",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/616491"
                                },
                                {
                                    "id": "0110178",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110178"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110178",
                            "name": "Charcot-Marie-Tooth disease axonal type 2V",
                            "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.",
                            "url": "http://disease-ontology.org/term/DOID:0110178",
                            "evidence": [
                                {
                                    "id": "616491",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/616491"
                                },
                                {
                                    "id": "0110178",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110178"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111394",
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                            "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.",
                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "evidence": [
                                {
                                    "id": "0009656",
                                    "database": "MONDO",
                                    "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                                },
                                {
                                    "id": "252920",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/252920"
                                },
                                {
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                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/4669#disease"
                                },
                                {
                                    "id": "0111394",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111394"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0111394",
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                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "evidence": [
                                {
                                    "id": "0009656",
                                    "database": "MONDO",
                                    "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                                },
                                {
                                    "id": "252920",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/252920"
                                },
                                {
                                    "id": "4669",
                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/4669#disease"
                                },
                                {
                                    "id": "0111394",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111394",
                            "name": "mucopolysaccharidosis type IIIB",
                            "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.",
                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "evidence": [
                                {
                                    "id": "0009656",
                                    "database": "MONDO",
                                    "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                                },
                                {
                                    "id": "252920",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/252920"
                                },
                                {
                                    "id": "4669",
                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/4669#disease"
                                },
                                {
                                    "id": "0111394",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111394",
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                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "evidence": [
                                {
                                    "id": "0009656",
                                    "database": "MONDO",
                                    "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                                },
                                {
                                    "id": "252920",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/252920"
                                },
                                {
                                    "id": "4669",
                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/4669#disease"
                                },
                                {
                                    "id": "0111394",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                                }
                            ]
                        }
                    ]
                },
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                    "comment": "Germline mutation passed 0 out of 0 filters:",
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                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757325483"
                        },
                        {
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                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757325483"
                        },
                        {
                            "id": "rs757325483",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs757325483#frequency_tab"
                        },
                        {
                            "id": "rs757325483",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs757325483"
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                    ]
                }
            ],
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                {
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                    "end_pos": 503,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "803",
                            "url": "https://glyconnect.expasy.org/browser/proteins/803"
                        }
                    ],
                    "protein_name": "Alpha-N-acetylglucosaminidase",
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            ]
        },
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                    "evidence": [
                        {
                            "id": "rs765926113",
                            "database": "dbSNP",
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                        {
                            "id": "rs765926113",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765926113"
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                        {
                            "id": "rs765926113",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs765926113#frequency_tab"
                        },
                        {
                            "id": "rs765926113",
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                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs765926113"
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                    ]
                },
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                    "chr_pos": "82403993",
                    "evidence": [
                        {
                            "id": "rs1315508747",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1315508747"
                        },
                        {
                            "id": "rs1315508747",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1315508747"
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                    ]
                }
            ],
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            "glycoprotein": [
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "981",
                            "url": "https://glyconnect.expasy.org/browser/proteins/981"
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                    ],
                    "protein_name": "2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3",
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            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "O00468-1",
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                    "evidence": [
                        {
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                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
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                            "id": "998",
                            "url": "https://glyconnect.expasy.org/browser/proteins/998"
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                    ],
                    "protein_name": "Agrin",
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            ]
        },
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                {
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                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NDT->SDT).",
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                    "chr_pos": "54361074",
                    "evidence": [
                        {
                            "id": "Q6GTX8",
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                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6GTX8"
                        },
                        {
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                            "database": "dbSNP",
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                        {
                            "id": "rs776061455",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776061455"
                        },
                        {
                            "id": "rs776061455",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs776061455"
                        }
                    ],
                    "disease": [
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                            "disease_id": "DOID:363",
                            "name": "uterine cancer",
                            "description": "A female reproductive organ cancer that is located_in the uterus.",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "evidence": [
                                {
                                    "id": "363",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:363"
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                            ]
                        }
                    ]
                }
            ],
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            "glycoprotein": [
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                    "uniprot_canonical_ac": "Q6GTX8-1",
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                    "residue": "Asn",
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                        {
                            "database": "PubMed",
                            "id": "30237853",
                            "url": "https://glygen.org/publication/PubMed/30237853"
                        },
                        {
                            "database": "GlyConnect",
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1998"
                        }
                    ],
                    "protein_name": "Leukocyte-associated immunoglobulin-like receptor 1",
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            ]
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                    ],
                    "protein_name": "Junctional adhesion molecule B",
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            ]
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                        {
                            "database": "GlyConnect",
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                            "url": "https://glyconnect.expasy.org/browser/proteins/2452"
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                    ],
                    "protein_name": "Kin of IRRE-like protein 3",
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                    "length": 778,
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            ]
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        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/2456"
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                    ],
                    "protein_name": "Laminin subunit alpha-2",
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            ]
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        {
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                    ],
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            ]
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                    ],
                    "protein_name": "Laminin subunit alpha-2",
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            ]
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                    ],
                    "protein_name": "Laminin subunit alpha-2",
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        {
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            ]
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            ]
        },
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                    "tax_id": 10090,
                    "tax_name": "Mus musculus",
                    "tax_common_name": "Mouse",
                    "weight": 6.1,
                    "length": 1053,
                    "chemical_mass": 116745.0
                }
            ]
        },
        {
            "start_pos": "330",
            "end_pos": "",
            "site_lbl": "Asn330",
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            "uniprot_canonical_ac": "Q8BXA0-1",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q8BXA0-1",
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                        {
                            "database": "PubMed",
                            "id": "30899004",
                            "url": "https://glygen.org/publication/PubMed/30899004"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "2424",
                            "url": "https://glyconnect.expasy.org/browser/proteins/2424"
                        }
                    ],
                    "protein_name": "Leucine-rich repeat and fibronectin type-III domain-containing protein 5",
                    "gene_name": "Lrfn5",
                    "tax_id": 10090,
                    "tax_name": "Mus musculus",
                    "tax_common_name": "Mouse",
                    "weight": 2.9,
                    "length": 719,
                    "chemical_mass": 79371.0
                }
            ]
        },
        {
            "start_pos": "75",
            "end_pos": "1280",
            "site_lbl": "Asn75",
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            "uniprot_canonical_ac": "B1AUH1-1",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "B1AUH1-1",
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                        {
                            "database": "PubMed",
                            "id": "30899004",
                            "url": "https://glygen.org/publication/PubMed/30899004"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "2427",
                            "url": "https://glyconnect.expasy.org/browser/proteins/2427"
                        }
                    ],
                    "protein_name": "Receptor-type tyrosine-protein phosphatase U",
                    "gene_name": "Ptpru",
                    "tax_id": 10090,
                    "tax_name": "Mus musculus",
                    "tax_common_name": "Mouse",
                    "weight": 2.7,
                    "length": 1446,
                    "chemical_mass": 162494.0
                }
            ]
        }
    ],
    "record_id": "G06110VR"
}
