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                        },
                        {
                            "disease_id": "DOID:3883",
                            "name": "Lynch syndrome",
                            "description": "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.",
                            "url": "http://disease-ontology.org/term/DOID:3883",
                            "evidence": [
                                {
                                    "id": "3883",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:3883"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0070271",
                            "name": "Lynch syndrome 1",
                            "description": "A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.",
                            "url": "http://disease-ontology.org/term/DOID:0070271",
                            "evidence": [
                                {
                                    "id": "120435",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/120435"
                                },
                                {
                                    "id": "0070271",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0070271"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0070271",
                            "name": "Lynch syndrome 1",
                            "description": "A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.",
                            "url": "http://disease-ontology.org/term/DOID:0070271",
                            "evidence": [
                                {
                                    "id": "120435",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/120435"
                                },
                                {
                                    "id": "0070271",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0070271"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0070271",
                            "name": "Lynch syndrome 1",
                            "description": "A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.",
                            "url": "http://disease-ontology.org/term/DOID:0070271",
                            "evidence": [
                                {
                                    "id": "120435",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/120435"
                                },
                                {
                                    "id": "0070271",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0070271"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0070271",
                            "name": "Lynch syndrome 1",
                            "description": "A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.",
                            "url": "http://disease-ontology.org/term/DOID:0070271",
                            "evidence": [
                                {
                                    "id": "120435",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/120435"
                                },
                                {
                                    "id": "0070271",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0070271"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0070271",
                            "name": "Lynch syndrome 1",
                            "description": "A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.",
                            "url": "http://disease-ontology.org/term/DOID:0070271",
                            "evidence": [
                                {
                                    "id": "120435",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/120435"
                                },
                                {
                                    "id": "0070271",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0070271"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0112182",
                            "name": "mismatch repair cancer syndrome",
                            "description": "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.",
                            "url": "http://disease-ontology.org/term/DOID:0112182",
                            "evidence": [
                                {
                                    "id": "0112182",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0112182"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0112182",
                            "name": "mismatch repair cancer syndrome",
                            "description": "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.",
                            "url": "http://disease-ontology.org/term/DOID:0112182",
                            "evidence": [
                                {
                                    "id": "0112182",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0112182"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0112182",
                            "name": "mismatch repair cancer syndrome",
                            "description": "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.",
                            "url": "http://disease-ontology.org/term/DOID:0112182",
                            "evidence": [
                                {
                                    "id": "0112182",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0112182"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0112182",
                            "name": "mismatch repair cancer syndrome",
                            "description": "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.",
                            "url": "http://disease-ontology.org/term/DOID:0112182",
                            "evidence": [
                                {
                                    "id": "0112182",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0112182"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0112182",
                            "name": "mismatch repair cancer syndrome",
                            "description": "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.",
                            "url": "http://disease-ontology.org/term/DOID:0112182",
                            "evidence": [
                                {
                                    "id": "0112182",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0112182"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050465",
                            "name": "Muir-Torre syndrome",
                            "description": "A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes.",
                            "url": "http://disease-ontology.org/term/DOID:0050465",
                            "evidence": [
                                {
                                    "id": "0050465",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050465",
                            "name": "Muir-Torre syndrome",
                            "description": "A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes.",
                            "url": "http://disease-ontology.org/term/DOID:0050465",
                            "evidence": [
                                {
                                    "id": "0050465",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050465",
                            "name": "Muir-Torre syndrome",
                            "description": "A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes.",
                            "url": "http://disease-ontology.org/term/DOID:0050465",
                            "evidence": [
                                {
                                    "id": "0050465",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050465",
                            "name": "Muir-Torre syndrome",
                            "description": "A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes.",
                            "url": "http://disease-ontology.org/term/DOID:0050465",
                            "evidence": [
                                {
                                    "id": "0050465",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050465",
                            "name": "Muir-Torre syndrome",
                            "description": "A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes.",
                            "url": "http://disease-ontology.org/term/DOID:0050465",
                            "evidence": [
                                {
                                    "id": "0050465",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "T",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->TIS).",
                    "chr_id": "2",
                    "chr_pos": "47471051",
                    "evidence": [
                        {
                            "id": "rs201118107",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201118107"
                        },
                        {
                            "id": "rs201118107",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201118107"
                        },
                        {
                            "id": "rs201118107",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs201118107#frequency_tab"
                        },
                        {
                            "id": "rs201118107",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs201118107"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "Y",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->YIS).",
                    "chr_id": "2",
                    "chr_pos": "47471050",
                    "evidence": [
                        {
                            "id": "rs2104279683",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2104279683"
                        },
                        {
                            "id": "rs2104279683",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs2104279683"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "null",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->nullIS).",
                    "chr_id": "2",
                    "chr_pos": "47471050_47471051",
                    "evidence": [
                        {
                            "id": "rs1553367687",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553367687"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:3883",
                            "name": "Lynch syndrome",
                            "description": "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.",
                            "url": "http://disease-ontology.org/term/DOID:3883",
                            "evidence": [
                                {
                                    "id": "3883",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:3883"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0070271",
                            "name": "Lynch syndrome 1",
                            "description": "A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.",
                            "url": "http://disease-ontology.org/term/DOID:0070271",
                            "evidence": [
                                {
                                    "id": "120435",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/120435"
                                },
                                {
                                    "id": "0070271",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0070271"
                                }
                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P43246-1",
                    "start_pos": 583,
                    "end_pos": 583,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
                        }
                    ],
                    "protein_name": "DNA mismatch repair protein Msh2",
                    "gene_name": "MSH2",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 934,
                    "chemical_mass": 104743.0
                }
            ]
        },
        {
            "start_pos": "80",
            "site_seq": "SYIFIYDGNKNSTTTDQNFTSAK",
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            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q61735-1",
                    "start_pos": 80,
                    "end_pos": 80,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "GlyGen",
                            "id": "GLY_000889",
                            "url": "https://data.glygen.org/GLY_000889"
                        }
                    ],
                    "protein_name": "Leukocyte surface antigen CD47",
                    "gene_name": "Cd47",
                    "tax_id": 10090,
                    "tax_name": "Mus musculus",
                    "tax_common_name": "Mouse",
                    "length": 303,
                    "chemical_mass": 33098.0
                }
            ]
        },
        {
            "start_pos": "80",
            "site_seq": "N",
            "site_lbl": "Asn80",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q61735-1",
                    "start_pos": 80,
                    "end_pos": 80,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "GlyGen",
                            "id": "GLY_000889",
                            "url": "https://data.glygen.org/GLY_000889"
                        }
                    ],
                    "protein_name": "Leukocyte surface antigen CD47",
                    "gene_name": "Cd47",
                    "tax_id": 10090,
                    "tax_name": "Mus musculus",
                    "tax_common_name": "Mouse",
                    "length": 303,
                    "chemical_mass": 33098.0
                }
            ]
        },
        {
            "start_pos": "2664",
            "site_seq": "KMAILTILDDSEPEDNESILVR",
            "site_lbl": "Asn2664",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q8VHN7-1",
                    "start_pos": 2664,
                    "end_pos": 2664,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "GlyGen",
                            "id": "GLY_000889",
                            "url": "https://data.glygen.org/GLY_000889"
                        }
                    ],
                    "protein_name": "Adhesion G-protein coupled receptor V1",
                    "gene_name": "Adgrv1",
                    "tax_id": 10090,
                    "tax_name": "Mus musculus",
                    "tax_common_name": "Mouse",
                    "length": 6298,
                    "chemical_mass": 687458.0
                }
            ]
        },
        {
            "start_pos": "2664",
            "site_seq": "",
            "site_lbl": "N2664",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "I",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NES->IES).",
                    "chr_id": "13",
                    "chr_pos": "81666224",
                    "evidence": [
                        {
                            "id": "rs3389293430",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389293430"
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q8VHN7-1",
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                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "GlyGen",
                            "id": "GLY_000889",
                            "url": "https://data.glygen.org/GLY_000889"
                        }
                    ],
                    "protein_name": "Adhesion G-protein coupled receptor V1",
                    "gene_name": "Adgrv1",
                    "tax_id": 10090,
                    "tax_name": "Mus musculus",
                    "tax_common_name": "Mouse",
                    "length": 6298,
                    "chemical_mass": 687458.0
                }
            ]
        },
        {
            "start_pos": "190",
            "site_seq": "NEDRPIAPCGAIANSMFNDTLELYLVANESDPKPIPIPLK",
            "site_lbl": "Asn190",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q8VEK0-1",
                    "start_pos": 190,
                    "end_pos": 190,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "GlyGen",
                            "id": "GLY_000889",
                            "url": "https://data.glygen.org/GLY_000889"
                        }
                    ],
                    "protein_name": "Cell cycle control protein 50A",
                    "gene_name": "Tmem30a",
                    "tax_id": 10090,
                    "tax_name": "Mus musculus",
                    "tax_common_name": "Mouse",
                    "length": 364,
                    "chemical_mass": 41061.0
                }
            ]
        }
    ],
    "record_id": "G21891JQ"
}
