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"site_seq": "nLSCIVNEGKK", "site_lbl": "Asn131", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P40189-1", "start_pos": 131, "end_pos": 131, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Interleukin-6 receptor subunit beta", "gene_name": "IL6ST", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 918, "chemical_mass": 103537.0 } ] }, { "start_pos": "131", "site_seq": "nLSCIVNEGK", "site_lbl": "Asn131", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P40189-1", "start_pos": 131, "end_pos": 131, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Interleukin-6 receptor subunit beta", "gene_name": "IL6ST", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 918, "chemical_mass": 103537.0 } ] }, { "start_pos": "131", "site_seq": "N", "site_lbl": "Asn131", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P40189-1", "start_pos": 131, "end_pos": 131, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Interleukin-6 receptor subunit beta", "gene_name": "IL6ST", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 918, "chemical_mass": 103537.0 } ] }, { "start_pos": "131", "site_seq": "NLSCIVNEGK", "site_lbl": "Asn131", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P40189-1", "start_pos": 131, "end_pos": 131, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Interleukin-6 receptor subunit beta", "gene_name": "IL6ST", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 918, "chemical_mass": 103537.0 } ] }, { "start_pos": "157", "site_seq": "ETHLETnFTLK", "site_lbl": "Asn157", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P40189-1", "start_pos": 157, "end_pos": 157, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Interleukin-6 receptor subunit beta", "gene_name": "IL6ST", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 918, "chemical_mass": 103537.0 } ] }, { "start_pos": "157", "site_seq": "ETHLETNFTLK", "site_lbl": "Asn157", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P40189-1", "start_pos": 157, "end_pos": 157, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Interleukin-6 receptor subunit beta", "gene_name": "IL6ST", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 918, "chemical_mass": 103537.0 } ] }, { "start_pos": "157", "site_seq": "N", "site_lbl": "Asn157", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P40189-1", "start_pos": 157, "end_pos": 157, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Interleukin-6 receptor subunit beta", "gene_name": "IL6ST", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 918, "chemical_mass": 103537.0 } ] }, { "start_pos": "83", "site_seq": "EQYTIInR", "site_lbl": "Asn83", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P40189-1", "start_pos": 83, "end_pos": 83, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Interleukin-6 receptor subunit beta", "gene_name": "IL6ST", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 918, "chemical_mass": 103537.0 } ] }, { "start_pos": "83", "site_seq": "N", "site_lbl": "Asn83", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P40189-1", "start_pos": 83, "end_pos": 83, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Interleukin-6 receptor subunit beta", "gene_name": "IL6ST", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 918, "chemical_mass": 103537.0 } ] }, { "start_pos": "83", "site_seq": "EQYTIINR", "site_lbl": "Asn83", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P40189-1", "start_pos": 83, "end_pos": 83, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Interleukin-6 receptor subunit beta", "gene_name": "IL6ST", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 918, "chemical_mass": 103537.0 } ] }, { "start_pos": "131", "site_seq": "", "site_lbl": "N131", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NLS->HLS).", "chr_id": "5", "chr_pos": "55968376", "evidence": [ { "id": "P40189", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P40189" } ], "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" } ] } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->KLS).", "chr_id": "NC_000005.10", "chr_pos": "55968374", "evidence": [] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->TLS).", "chr_id": "5", "chr_pos": "55968375", "evidence": [ { "id": "rs1317590575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317590575" }, { "id": "rs1317590575", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1317590575" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P40189-1", "start_pos": 131, "end_pos": 131, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Interleukin-6 receptor subunit beta", "gene_name": "IL6ST", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 918, "chemical_mass": 103537.0 } ] }, { "start_pos": "157", "site_seq": "", "site_lbl": "N157", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->KFT).", "chr_id": "5", "chr_pos": "55963484", "evidence": [ { "id": "rs886233594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886233594" }, { "id": "rs886233594", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs886233594" }, { "id": "rs1752755231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1752755231" }, { "id": "rs1752755231", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1752755231#frequency_tab" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->TFT).", "chr_id": "5", "chr_pos": "55963485", "evidence": [ { "id": "rs1170264106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1170264106" }, { "id": "rs1170264106", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1170264106" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P40189-1", "start_pos": 157, "end_pos": 157, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Interleukin-6 receptor subunit beta", "gene_name": "IL6ST", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 918, "chemical_mass": 103537.0 } ] }, { "start_pos": "83", "site_seq": "", "site_lbl": "N83", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->KRT).", "chr_id": "5", "chr_pos": "55969671", "evidence": [ { "id": "rs768511842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768511842" }, { "id": "rs768511842", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768511842" }, { "id": "rs768511842", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768511842#frequency_tab" }, { "id": "rs768511842", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768511842" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->TRT).", "chr_id": "5", "chr_pos": "55969672", "evidence": [ { "id": "rs1413376396", "database": "dbSNP", "url": 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"PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Receptor-type tyrosine-protein phosphatase F", "gene_name": "PTPRF", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1907, "chemical_mass": 212879.0 } ] }, { "start_pos": "966", "site_seq": "DINSQQELQnITTDTR", "site_lbl": "Asn966", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P10586-1", "start_pos": 966, "end_pos": 966, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Receptor-type tyrosine-protein phosphatase F", "gene_name": "PTPRF", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1907, "chemical_mass": 212879.0 } ] }, { "start_pos": "966", "site_seq": "N", "site_lbl": "Asn966", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P10586-1", "start_pos": 966, "end_pos": 966, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Receptor-type tyrosine-protein phosphatase F", "gene_name": "PTPRF", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1907, "chemical_mass": 212879.0 } ] }, { "start_pos": "966", "site_seq": "DINSQQELQNITTDTR", "site_lbl": "Asn966", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P10586-1", "start_pos": 966, "end_pos": 966, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Receptor-type tyrosine-protein phosphatase F", "gene_name": "PTPRF", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1907, "chemical_mass": 212879.0 } ] }, { "start_pos": "721", "site_seq": "", "site_lbl": "N721", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->DST).", "chr_id": "1", "chr_pos": "43598761", "evidence": [ { "id": "rs1570496457", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1570496457" }, { "id": "rs1570496457", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1570496457" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NST->KST).", "chr_id": "1", "chr_pos": "43598763", "evidence": [ { "id": "P10586", "database": "BioMuta", "url": 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