[{"source":"ClinVar","attributes":{"associated_gene":"SAP30BP"},"description":"ClinVar: phenotype not specified","location":"17:75703848-75703848","Variation":"rs756353200"},{"source":"ClinVar","Variation":"rs374805218","attributes":{"associated_gene":"SAP30BP"},"description":"ClinVar: phenotype not specified","location":"17:75671825-75671825"},{"source":"ClinVar","Variation":"rs937955163","description":"ClinVar: phenotype not specified","attributes":{"associated_gene":"SAP30BP"},"location":"17:75668580-75668580"},{"ontology_accessions":["EFO:1001250"],"source":"NHGRI-EBI GWAS catalog","attributes":{"associated_gene":"SAP30BP","external_reference":"PMID:26350878"},"location":"17:75691415-75691415","description":"Rotator cuff tears","Variation":"rs820218"},{"attributes":{"associated_gene":"SAP30BP"},"location":"17:75671853-75671853","description":"ClinVar: phenotype not specified","Variation":"rs2059912212","source":"ClinVar"},{"Variation":"rs1293461793","description":"ClinVar: phenotype not specified","attributes":{"associated_gene":"LOC126862642,SAP30BP"},"location":"17:75667382-75667382","source":"ClinVar"},{"location":"17:75706403-75706403","attributes":{"associated_gene":"LOC126862644,SAP30BP"},"description":"ClinVar: phenotype not specified","Variation":"rs750522598","source":"ClinVar"},{"source":"ClinVar","attributes":{"associated_gene":"SAP30BP"},"location":"17:75671838-75671838","description":"ClinVar: phenotype not specified","Variation":"rs141727230"},{"Variation":"rs199944352","description":"ClinVar: phenotype not specified","attributes":{"associated_gene":"SAP30BP"},"location":"17:75668522-75668522","source":"ClinVar"},{"description":"ClinVar: phenotype not specified","attributes":{"associated_gene":"LOC126862644,SAP30BP"},"location":"17:75706394-75706394","Variation":"rs200708050","source":"ClinVar"},{"attributes":{"associated_gene":"SAP30BP"},"location":"17:75668604-75668604","description":"ClinVar: phenotype not specified","Variation":"rs761159237","source":"ClinVar"},{"Variation":"rs1555715580","location":"17:75667380-75667380","attributes":{"associated_gene":"LOC126862642,SAP30BP"},"description":"ClinVar: phenotype not specified","source":"ClinVar"},{"location":"17:75693464-75693464","attributes":{"associated_gene":"SAP30BP"},"description":"ClinVar: phenotype not specified","Variation":"rs759029772","source":"ClinVar"},{"attributes":{"associated_gene":"SAP30BP"},"description":"ClinVar: phenotype not specified","location":"17:75706021-75706021","Variation":"rs2060491587","source":"ClinVar"},{"source":"ClinVar","description":"ClinVar: phenotype not specified","attributes":{"associated_gene":"SAP30BP"},"location":"17:75704770-75704770","Variation":"rs1228369055"},{"source":"ClinVar","Variation":"rs759867661","attributes":{"associated_gene":"LOC126862644,SAP30BP"},"location":"17:75706442-75706442","description":"ClinVar: phenotype not specified"},{"description":"ClinVar: phenotype not specified","attributes":{"associated_gene":"LOC126862643,SAP30BP"},"location":"17:75699862-75699862","Variation":"rs1417419719","source":"ClinVar"},{"source":"ClinVar","Variation":"rs143739015","description":"ClinVar: phenotype not specified","attributes":{"associated_gene":"SAP30BP"},"location":"17:75706053-75706053"},{"source":"ClinVar","Variation":"rs999419400","location":"17:75702510-75702510","attributes":{"associated_gene":"SAP30BP"},"description":"ClinVar: phenotype not specified"},{"source":"COSMIC","ontology_accessions":["EFO:0004142","HP:0100834"],"description":"Large intestine tumour","location":"17:75667379-75667379","Variation":"COSV53129183"},{"Variation":"COSV99503009","location":"17:75668566-75668566","description":"Lung tumour","source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"]},{"description":"Endometrium tumour","location":"17:75702504-75702504","Variation":"COSV99502708","ontology_accessions":["MONDO:0021251"],"source":"COSMIC"},{"source":"COSMIC","ontology_accessions":["MONDO:0021355"],"location":"17:75681773-75681773","description":"Oesophagus tumour","Variation":"COSV53130339"},{"description":"Biliary tract tumour","location":"17:75703982-75703982","Variation":"COSV53128944","source":"COSMIC"},{"ontology_accessions":["EFO:0003865"],"source":"COSMIC","Variation":"COSV53127193","location":"17:75667717-75667717","description":"Kidney tumour"},{"Variation":"COSV53127651","description":"Endometrium tumour","location":"17:75693461-75693461","ontology_accessions":["MONDO:0021251"],"source":"COSMIC"},{"source":"DGVa","ontology_accessions":["EFO:0000495","HP:0001511"],"SupportingStructuralVariation":"nssv13655880","description":"Intrauterine growth retardation","attributes":{"external_reference":"PMID:20466091"},"location":"17:150733-83084062"},{"Variation":"COSV99502931","location":"17:75706586-75706586","description":"Endometrium tumour","source":"COSMIC","ontology_accessions":["MONDO:0021251"]},{"source":"DGVa","ontology_accessions":["EFO:0003893"],"SupportingStructuralVariation":"essv16638194","attributes":{"external_reference":"https://cancer.sanger.ac.uk/cosmic/"},"location":"17:75023532-75783913","description":"Ovary tumour"},{"Variation":"COSV53128046","location":"17:75691415-75691415","description":"Small intestine tumour","source":"COSMIC","ontology_accessions":["HP:0100833","MONDO:0004251"]},{"source":"COSMIC","ontology_accessions":["EFO:0003893"],"Variation":"COSV53128360","location":"17:75672695-75672695","description":"Ovary tumour"},{"description":"Liver tumour","location":"17:75680165-75680165","Variation":"COSV53128526","ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC"},{"Variation":"COSV53130527","description":"Breast tumour","location":"17:75705129-75705129","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"source":"COSMIC"},{"ontology_accessions":["MONDO:0021066"],"source":"COSMIC","description":"Urinary tract tumour","location":"17:75703842-75703842","Variation":"COSV107353250"},{"description":"Pancreas tumour","location":"17:75677253-75677253","Variation":"COSV53128856","ontology_accessions":["EFO:0003860"],"source":"COSMIC"},{"location":"17:75701964-75701964","description":"Pancreas tumour","Variation":"COSV53130357","source":"COSMIC","ontology_accessions":["EFO:0003860"]},{"Variation":"COSV53129950","description":"Large intestine tumour","location":"17:75706456-75706456","source":"COSMIC","ontology_accessions":["EFO:0004142","HP:0100834"]},{"source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"],"description":"Lung tumour","location":"17:75667357-75667357","Variation":"COSV99502922"},{"source":"NHGRI-EBI GWAS catalog","ontology_accessions":["EFO:0007845","OBA:VT0003769"],"attributes":{"external_reference":"PMID:27560520","beta_coefficient":"0.2727 unit increase","risk_allele":"A","associated_gene":"Intergenic","p_value":"4.00e-7"},"description":"Lip morphology","location":"17:75692214-75692214","Variation":"rs820217"},{"Variation":"COSV99502953","description":"Stomach tumour","location":"17:75693620-75693620","ontology_accessions":["EFO:0003897","HP:0006753"],"source":"COSMIC"},{"ontology_accessions":["MONDO:0021259"],"source":"COSMIC","Variation":"COSV53128536","location":"17:75698324-75698324","description":"Prostate tumour"},{"StructuralVariation":"nsv2774357","location":"17:16854249-83103577","attributes":{"external_reference":"PMID:20466091"},"description":"Global developmental delay","ontology_accessions":["HP:0001263"],"source":"DGVa"},{"source":"COSMIC","description":"Upper aerodigestive tract tumour","location":"17:75668584-75668584","Variation":"COSV99503090"},{"source":"COSMIC","ontology_accessions":["MONDO:0021259"],"Variation":"COSV53127702","location":"17:75688999-75688999","description":"Prostate tumour"},{"source":"dbVar","SupportingStructuralVariation":"nssv15152233","description":"See cases","location":"17:69006274-83084062"},{"location":"17:69006274-83084062","attributes":{"external_reference":"PMID:20466091"},"description":"Craniosynostosis","StructuralVariation":"nsv2779064","ontology_accessions":["HP:0000006","HP:0000262","HP:0000263","HP:0000268","HP:0001363","MONDO:0015469","Orphanet:1531"],"source":"DGVa"},{"ontology_accessions":["EFO:0003865"],"source":"COSMIC","Variation":"COSV99502614","location":"17:75704777-75704777","description":"Kidney tumour"},{"description":"Biliary tract tumour","location":"17:75687919-75687918","Variation":"COSV53130819","source":"COSMIC"},{"ontology_accessions":["EFO:0004142","HP:0100834"],"source":"COSMIC","Variation":"COSV53128716","description":"Large intestine tumour","location":"17:75668567-75668567"},{"Variation":"COSV53127244","location":"17:75693387-75693390","description":"Breast tumour","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"source":"COSMIC"},{"Variation":"rs1417419719","attributes":{"clinical_significance":"uncertain significance","risk_allele":"A","associated_gene":"LOC126862643,SAP30BP","external_id":"RCV004855852.1"},"description":"ClinVar: phenotype not specified","location":"17:75699862-75699862","source":"ClinVar"},{"ontology_accessions":["EFO:0003897","HP:0006753"],"source":"COSMIC","location":"17:75690623-75690623","description":"Stomach tumour","Variation":"COSV53129812"},{"ontology_accessions":["MONDO:0021251"],"source":"COSMIC","description":"Endometrium tumour","location":"17:75706535-75706535","Variation":"COSV99502837"},{"source":"ClinVar","Variation":"rs1228369055","location":"17:75704770-75704770","attributes":{"clinical_significance":"uncertain significance","associated_gene":"SAP30BP","risk_allele":"G","external_id":"RCV004855847.1"},"description":"ClinVar: phenotype not specified"},{"source":"DGVa","ontology_accessions":["HP:0000347"],"attributes":{"external_reference":"PMID:20466091"},"location":"17:150733-83084062","description":"Micrognathia","StructuralVariation":"nsv2769779"},{"source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"],"Variation":"COSV53129759","description":"Liver tumour","location":"17:75672588-75672588"},{"Variation":"COSV53129977","description":"Prostate tumour","location":"17:75667444-75667444","source":"COSMIC","ontology_accessions":["MONDO:0021259"]},{"description":"Pancreas tumour","location":"17:75697501-75697501","Variation":"COSV53130229","ontology_accessions":["EFO:0003860"],"source":"COSMIC"},{"location":"17:75696246-75696246","description":"Haematopoietic and lymphoid tissue tumour","Variation":"COSV53130562","source":"COSMIC"},{"Variation":"COSV53127042","description":"Pancreas tumour","location":"17:75706820-75706820","source":"COSMIC","ontology_accessions":["EFO:0003860"]},{"source":"ClinVar","Variation":"rs761159237","attributes":{"external_id":"RCV004855848.1","associated_gene":"SAP30BP","risk_allele":"T","clinical_significance":"uncertain significance"},"location":"17:75668604-75668604","description":"ClinVar: phenotype not specified"},{"source":"ClinVar","location":"17:75706394-75706394","attributes":{"external_id":"RCV004450110.1","risk_allele":"G","associated_gene":"LOC126862644,SAP30BP","clinical_significance":"uncertain significance"},"description":"ClinVar: phenotype not specified","Variation":"rs200708050"},{"location":"17:75669566-75669566","description":"Liver tumour","Variation":"COSV53129728","source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"]},{"ontology_accessions":["MONDO:0021066"],"source":"COSMIC","Variation":"COSV53128461","description":"Urinary tract tumour","location":"17:75667405-75667405"},{"ontology_accessions":["EFO:0003860"],"source":"DGVa","location":"17:75551221-75706136","attributes":{"external_reference":"https://cancer.sanger.ac.uk/cosmic/"},"description":"Pancreas tumour","SupportingStructuralVariation":"essv16629900"},{"ontology_accessions":["MONDO:0021355"],"source":"COSMIC","location":"17:75706748-75706748","description":"Oesophagus tumour","Variation":"COSV53128233"},{"source":"COSMIC","ontology_accessions":["MONDO:0021259"],"Variation":"COSV53129032","description":"Prostate tumour","location":"17:75694403-75694403"},{"ontology_accessions":["EFO:0004198"],"source":"COSMIC","Variation":"COSV53128780","location":"17:75690679-75690679","description":"Skin tumour"},{"Variation":"COSV105120453","description":"Skin tumour","location":"17:75706377-75706377","ontology_accessions":["EFO:0004198"],"source":"COSMIC"},{"source":"dbVar","SupportingStructuralVariation":"nssv15121940","description":"See cases","location":"17:75636351-75970744"},{"Variation":"COSV53127773","location":"17:75670309-75670309","description":"Oesophagus tumour","source":"COSMIC","ontology_accessions":["MONDO:0021355"]},{"description":"Lung tumour","location":"17:75706457-75706457","Variation":"COSV53128338","source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"]},{"description":"Bone tumour","location":"17:75678977-75678977","Variation":"COSV107353229","source":"COSMIC","ontology_accessions":["DOID:184","EFO:1000350"]},{"Variation":"COSV53129068","description":"Breast tumour","location":"17:75695990-75695990","source":"COSMIC","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"]},{"Variation":"COSV53130650","location":"17:75706361-75706361","description":"Large intestine tumour","source":"COSMIC","ontology_accessions":["EFO:0004142","HP:0100834"]},{"source":"COSMIC","ontology_accessions":["EFO:0004198"],"Variation":"COSV105120388","description":"Skin tumour","location":"17:75703842-75703842"},{"description":"Pancreas tumour","location":"17:75668395-75668395","Variation":"COSV53127183","source":"COSMIC","ontology_accessions":["EFO:0003860"]},{"ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC","Variation":"COSV53129642","description":"Liver tumour","location":"17:75695190-75695190"},{"Variation":"COSV53129049","description":"Skin tumour","location":"17:75699821-75699821","ontology_accessions":["EFO:0004198"],"source":"COSMIC"},{"Variation":"rs117250972","description":"Vaginal microbiome MetaCyc pathway PWY-5741|ethylmalonyl-CoA pathway","attributes":{"beta_coefficient":"0.7158 unit increase","external_reference":"PMID:34282934","p_value":"1.00e-6","risk_allele":"A"},"location":"17:75678660-75678660","ontology_accessions":["EFO:0011013"],"source":"NHGRI-EBI GWAS catalog"},{"ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC","Variation":"COSV53130968","description":"Liver tumour","location":"17:75675043-75675043"},{"ontology_accessions":["EFO:0004198"],"source":"COSMIC","description":"Skin tumour","location":"17:75668526-75668526","Variation":"COSV53128256"},{"Variation":"COSV53128324","description":"Stomach tumour","location":"17:75667349-75667349","source":"COSMIC","ontology_accessions":["EFO:0003897","HP:0006753"]},{"ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC","description":"Liver tumour","location":"17:75690755-75690755","Variation":"COSV53130364"},{"SupportingStructuralVariation":"nssv13642739","description":"obsolete Malformation of the heart and great vessels","attributes":{"external_reference":"PMID:20466091"},"location":"17:150733-83084062","source":"DGVa"},{"description":"Skin tumour","location":"17:75706054-75706054","Variation":"COSV104532745","ontology_accessions":["EFO:0004198"],"source":"COSMIC"},{"ontology_accessions":["MONDO:0012342"],"source":"dbVar","location":"17:74722138-76146175","description":"Williams-Beuren region duplication syndrome","SupportingStructuralVariation":"nssv18841905"},{"Variation":"COSV108094431","description":"Oesophagus tumour","location":"17:75690765-75690764","ontology_accessions":["MONDO:0021355"],"source":"COSMIC"},{"location":"17:75680209-75680209","description":"Central nervous system tumour","Variation":"COSV53126815","ontology_accessions":["EFO:0000326","EFO:1000158"],"source":"COSMIC"},{"source":"COSMIC","ontology_accessions":["MONDO:0021251"],"description":"Endometrium tumour","location":"17:75667394-75667393","Variation":"COSV99503074"},{"source":"COSMIC","ontology_accessions":["EFO:0000326","EFO:1000158"],"location":"17:75699803-75699803","description":"Central nervous system tumour","Variation":"COSV99502940"},{"source":"COSMIC","ontology_accessions":["EFO:0000326","EFO:1000158"],"location":"17:75681065-75681065","description":"Central nervous system tumour","Variation":"COSV53130445"},{"description":"Endometrium tumour","location":"17:75707476-75707476","Variation":"COSV99503016","source":"COSMIC","ontology_accessions":["MONDO:0021251"]},{"ontology_accessions":["EFO:0004142","HP:0100834"],"source":"COSMIC","description":"Large intestine tumour","location":"17:75704806-75704806","Variation":"COSV53129913"},{"location":"17:44503316-83137846","description":"See cases","SupportingStructuralVariation":"nssv15149626","source":"dbVar"},{"location":"17:75685537-75685537","description":"Liver tumour","Variation":"COSV53127172","source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"]},{"Variation":"COSV53130269","location":"17:75700154-75700154","description":"Pancreas tumour","source":"COSMIC","ontology_accessions":["EFO:0003860"]},{"ontology_accessions":["MONDO:0021259"],"source":"COSMIC","Variation":"COSV53129987","location":"17:75672270-75672270","description":"Prostate tumour"},{"location":"17:75692108-75692108","description":"Pancreas tumour","Variation":"COSV53130547","ontology_accessions":["EFO:0003860"],"source":"COSMIC"},{"source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"],"Variation":"COSV104532740","description":"Lung tumour","location":"17:75675633-75675633"},{"ontology_accessions":["EFO:0004198"],"source":"COSMIC","location":"17:75706352-75706352","description":"Skin tumour","Variation":"COSV104532754"},{"location":"17:75707465-75707465","description":"Endometrium tumour","Variation":"COSV99502697","ontology_accessions":["MONDO:0021251"],"source":"COSMIC"},{"ontology_accessions":["MONDO:0012342"],"source":"dbVar","description":"7q11.23 Duplication Syndrome","location":"17:74722138-76146175","StructuralVariation":"nsv7148155"},{"Variation":"rs750522598","attributes":{"risk_allele":"G","associated_gene":"LOC126862644,SAP30BP","external_id":"RCV004855850.1","clinical_significance":"uncertain significance"},"description":"ClinVar: phenotype not specified","location":"17:75706403-75706403","source":"ClinVar"},{"ontology_accessions":["MONDO:0021355"],"source":"COSMIC","Variation":"COSV53127285","description":"Oesophagus tumour","location":"17:75682640-75682640"},{"Variation":"COSV53129557","location":"17:75704760-75704760","description":"Breast tumour","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"source":"COSMIC"},{"description":"Liver tumour","location":"17:75691070-75691070","Variation":"COSV53127898","source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"]},{"ontology_accessions":["EFO:0004198"],"source":"COSMIC","description":"Skin tumour","location":"17:75667364-75667364","Variation":"COSV107353228"},{"description":"Williams-Beuren region duplication syndrome","location":"17:74722138-76146175","StructuralVariation":"nsv7148155","source":"dbVar","ontology_accessions":["MONDO:0012342"]},{"source":"ClinVar","attributes":{"associated_gene":"SAP30BP","risk_allele":"G","external_id":"RCV004327600.1","clinical_significance":"uncertain significance"},"description":"ClinVar: phenotype not specified","location":"17:75668580-75668580","Variation":"rs937955163"},{"Variation":"COSV53126685","description":"Haematopoietic and lymphoid tissue tumour","location":"17:75688706-75688706","source":"COSMIC"},{"source":"DGVa","attributes":{"external_reference":"PMID:20466091"},"description":"obsolete Malformation of the heart and great vessels","location":"17:150733-83084062","StructuralVariation":"nsv2769779"},{"source":"COSMIC","ontology_accessions":["HP:0100833","MONDO:0004251"],"Variation":"COSV53130029","location":"17:75667292-75667292","description":"Small intestine tumour"},{"ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC","location":"17:75707846-75707846","description":"Liver tumour","Variation":"COSV53129822"},{"Variation":"COSV53127724","description":"Large intestine tumour","location":"17:75668604-75668604","source":"COSMIC","ontology_accessions":["EFO:0004142","HP:0100834"]},{"source":"DGVa","ontology_accessions":["EFO:0003893"],"StructuralVariation":"esv3809062","description":"Ovary tumour","attributes":{"external_reference":"https://cancer.sanger.ac.uk/cosmic/"},"location":"17:75023532-75783913"},{"Variation":"rs999419400","description":"ClinVar: phenotype not specified","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV004658467.1","risk_allele":"G","associated_gene":"SAP30BP"},"location":"17:75702510-75702510","source":"ClinVar"},{"ontology_accessions":["EFO:0003893"],"source":"COSMIC","location":"17:75668793-75668793","description":"Ovary tumour","Variation":"COSV53127758"},{"Variation":"COSV53126970","location":"17:75674704-75674704","description":"Kidney tumour","ontology_accessions":["EFO:0003865"],"source":"COSMIC"},{"source":"COSMIC","ontology_accessions":["HP:0100833","MONDO:0004251"],"Variation":"COSV107353214","location":"17:75668551-75668551","description":"Small intestine tumour"},{"ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC","description":"Liver tumour","location":"17:75704627-75704627","Variation":"COSV53126726"},{"source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"],"Variation":"COSV99502882","description":"Lung tumour","location":"17:75667396-75667396"},{"location":"17:75706486-75706486","description":"Lung tumour","Variation":"COSV53130320","ontology_accessions":["HP:0100526","MONDO:0021117"],"source":"COSMIC"},{"description":"Large intestine tumour","location":"17:75699919-75699919","Variation":"COSV53128208","source":"COSMIC","ontology_accessions":["EFO:0004142","HP:0100834"]},{"Variation":"COSV53128065","description":"Haematopoietic and lymphoid tissue tumour","location":"17:75696556-75696556","source":"COSMIC"},{"source":"COSMIC","Variation":"COSV53128930","description":"Haematopoietic and lymphoid tissue tumour","location":"17:75674704-75674703"},{"ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC","Variation":"COSV53130013","description":"Liver tumour","location":"17:75682920-75682920"},{"Variation":"COSV53131057","location":"17:75680596-75680596","description":"Liver tumour","ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC"},{"Variation":"rs759029772","attributes":{"clinical_significance":"uncertain significance","risk_allele":"A","associated_gene":"SAP30BP","external_id":"RCV004278913.1"},"description":"ClinVar: phenotype not specified","location":"17:75693464-75693464","source":"ClinVar"},{"ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC","location":"17:75690623-75690623","description":"Liver tumour","Variation":"COSV53129812"},{"description":"Skin tumour","location":"17:75706504-75706504","Variation":"COSV104532744","ontology_accessions":["EFO:0004198"],"source":"COSMIC"},{"ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC","description":"Liver tumour","location":"17:75698056-75698056","Variation":"COSV53129582"},{"Variation":"COSV99503070","description":"Stomach tumour","location":"17:75704722-75704722","source":"COSMIC","ontology_accessions":["EFO:0003897","HP:0006753"]},{"source":"COSMIC","description":"Haematopoietic and lymphoid tissue tumour","location":"17:75675859-75675859","Variation":"COSV53128789"},{"ontology_accessions":["EFO:0004198"],"source":"COSMIC","description":"Skin tumour","location":"17:75706475-75706475","Variation":"COSV104532750"},{"Variation":"COSV53128350","location":"17:75668528-75668528","description":"Oesophagus tumour","ontology_accessions":["MONDO:0021355"],"source":"COSMIC"},{"source":"DGVa","attributes":{"external_reference":"PMID:20466091"},"description":"Developmental delay AND/OR other significant developmental or morphological phenotypes","location":"17:66245208-83084062","StructuralVariation":"nsv2770241"},{"ontology_accessions":["EFO:0003860"],"source":"DGVa","StructuralVariation":"esv3801616","attributes":{"external_reference":"https://cancer.sanger.ac.uk/cosmic/"},"description":"Pancreas tumour","location":"17:75551221-75706136"},{"source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"],"location":"17:75702562-75702562","description":"Lung tumour","Variation":"COSV53130608"},{"Variation":"COSV53128449","description":"Lung tumour","location":"17:75699810-75699810","source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"]},{"location":"17:75667464-75667464","description":"Oesophagus tumour","Variation":"COSV107353213","source":"COSMIC","ontology_accessions":["MONDO:0021355"]},{"Variation":"COSV53126564","description":"Liver tumour","location":"17:75698641-75698641","ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC"},{"Variation":"COSV105120418","location":"17:75683780-75683780","description":"Stomach tumour","ontology_accessions":["EFO:0003897","HP:0006753"],"source":"COSMIC"},{"source":"COSMIC","ontology_accessions":["MONDO:0021251"],"Variation":"COSV99503077","location":"17:75704802-75704802","description":"Endometrium tumour"},{"Variation":"COSV53130224","location":"17:75693462-75693462","description":"Lung tumour","source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"]},{"description":"Breast tumour","location":"17:75686464-75686464","Variation":"COSV53127906","source":"COSMIC","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"]},{"description":"Craniosynostosis","attributes":{"external_reference":"PMID:20466091"},"location":"17:69006274-83084062","SupportingStructuralVariation":"nssv13655987","ontology_accessions":["HP:0000006","HP:0000262","HP:0000263","HP:0000268","HP:0001363","MONDO:0015469","Orphanet:1531"],"source":"DGVa"},{"source":"COSMIC","location":"17:75678827-75678827","description":"Upper aerodigestive tract tumour","Variation":"COSV53127380"},{"location":"17:75682148-75682148","description":"Breast tumour","Variation":"COSV53128997","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"source":"COSMIC"},{"source":"COSMIC","description":"Biliary tract tumour","location":"17:75682202-75682201","Variation":"COSV53127809"},{"Variation":"COSV106424459","location":"17:75702875-75702875","description":"Soft tissue tumour","ontology_accessions":["EFO:1000541"],"source":"COSMIC"},{"Variation":"COSV53130803","location":"17:75690729-75690729","description":"Liver tumour","source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"]},{"Variation":"COSV53126791","location":"17:75667394-75667394","description":"Urinary tract tumour","ontology_accessions":["MONDO:0021066"],"source":"COSMIC"},{"Variation":"COSV53129652","description":"Prostate tumour","location":"17:75683670-75683670","ontology_accessions":["MONDO:0021259"],"source":"COSMIC"},{"source":"DGVa","ontology_accessions":["HP:0004322"],"StructuralVariation":"nsv993419","description":"Short stature","attributes":{"external_reference":"PMID:20466091"},"location":"17:69916435-83102552"},{"location":"17:75685091-75685091","description":"Liver tumour","Variation":"COSV53130781","ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC"},{"ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC","location":"17:75694697-75694697","description":"Liver tumour","Variation":"COSV53127361"},{"Variation":"COSV53130081","description":"Lung tumour","location":"17:75703318-75703318","ontology_accessions":["HP:0100526","MONDO:0021117"],"source":"COSMIC"},{"source":"COSMIC","description":"Biliary tract tumour","location":"17:75703169-75703169","Variation":"COSV99502748"},{"Variation":"COSV53127676","location":"17:75671616-75671616","description":"Oesophagus tumour","source":"COSMIC","ontology_accessions":["MONDO:0021355"]},{"location":"17:75667349-75667349","description":"Large intestine tumour","Variation":"COSV53128324","source":"COSMIC","ontology_accessions":["EFO:0004142","HP:0100834"]},{"source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"],"description":"Liver tumour","location":"17:75675741-75675741","Variation":"COSV53130374"},{"description":"Pancreas tumour","location":"17:75674707-75674707","Variation":"COSV53127017","ontology_accessions":["EFO:0003860"],"source":"COSMIC"},{"description":"Large intestine tumour","location":"17:75671887-75671887","Variation":"COSV53128937","source":"COSMIC","ontology_accessions":["EFO:0004142","HP:0100834"]},{"source":"COSMIC","ontology_accessions":["MONDO:0021259"],"description":"Prostate tumour","location":"17:75697793-75697793","Variation":"COSV53128242"},{"source":"COSMIC","ontology_accessions":["EFO:0004142","HP:0100834"],"location":"17:75703831-75703831","description":"Large intestine tumour","Variation":"COSV53130580"},{"Variation":"COSV107353233","location":"17:75668569-75668569","description":"Small intestine tumour","source":"COSMIC","ontology_accessions":["HP:0100833","MONDO:0004251"]},{"StructuralVariation":"nsv531192","description":"Developmental delay AND/OR other significant developmental or morphological phenotypes","location":"17:69209079-83086677","source":"DGVa"},{"location":"17:75685587-75685587","description":"Breast tumour","Variation":"COSV53127002","source":"COSMIC","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"]},{"Variation":"COSV53129267","description":"Kidney tumour","location":"17:75699858-75699858","ontology_accessions":["EFO:0003865"],"source":"COSMIC"},{"Variation":"COSV53127997","location":"17:75702625-75702625","description":"Breast tumour","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"source":"COSMIC"},{"source":"COSMIC","ontology_accessions":["EFO:0004198"],"Variation":"COSV99502795","description":"Skin tumour","location":"17:75667379-75667379"},{"StructuralVariation":"nsv2769779","attributes":{"external_reference":"PMID:20466091"},"location":"17:150733-83084062","description":"Polydactyly","source":"DGVa","ontology_accessions":["HP:0010442","MONDO:0021003","Orphanet:2913"]},{"ontology_accessions":["EFO:0004142","HP:0100834"],"source":"COSMIC","Variation":"COSV99502849","location":"17:75667372-75667372","description":"Large intestine tumour"},{"description":"Large intestine tumour","location":"17:75702561-75702561","Variation":"COSV104394252","ontology_accessions":["EFO:0004142","HP:0100834"],"source":"COSMIC"},{"description":"Haematopoietic and lymphoid tissue tumour","location":"17:75706074-75706074","Variation":"COSV99502756","source":"COSMIC"},{"Variation":"COSV53128915","description":"Liver tumour","location":"17:75677126-75677127","source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"]},{"Variation":"COSV99502815","location":"17:75667318-75667318","description":"Skin tumour","ontology_accessions":["EFO:0004198"],"source":"COSMIC"},{"source":"COSMIC","location":"17:75702401-75702401","description":"Haematopoietic and lymphoid tissue tumour","Variation":"COSV53128174"},{"source":"COSMIC","ontology_accessions":["EFO:0003860"],"Variation":"COSV53127370","location":"17:75706296-75706296","description":"Pancreas tumour"},{"ontology_accessions":["EFO:0003897","HP:0006753"],"source":"COSMIC","description":"Stomach tumour","location":"17:75683789-75683789","Variation":"COSV53128827"},{"ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"source":"COSMIC","location":"17:75688194-75688194","description":"Breast tumour","Variation":"COSV53127923"},{"source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"],"Variation":"COSV53128224","description":"Liver tumour","location":"17:75702814-75702814"},{"description":"See cases","location":"17:36382248-83103577","StructuralVariation":"nsv3911811","source":"dbVar"},{"source":"COSMIC","Variation":"COSV53130724","description":"Biliary tract tumour","location":"17:75684802-75684802"},{"description":"Large intestine tumour","location":"17:75706370-75706370","Variation":"COSV53129876","ontology_accessions":["EFO:0004142","HP:0100834"],"source":"COSMIC"},{"ontology_accessions":["EFO:0004198"],"source":"COSMIC","location":"17:75682792-75682792","description":"Skin tumour","Variation":"COSV53129208"},{"source":"COSMIC","Variation":"COSV53126596","description":"Haematopoietic and lymphoid tissue tumour","location":"17:75678408-75678408"},{"ontology_accessions":["EFO:0004142","HP:0100834"],"source":"COSMIC","Variation":"COSV53130399","location":"17:75690790-75690790","description":"Large intestine tumour"},{"source":"COSMIC","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"Variation":"COSV53130569","location":"17:75700723-75700723","description":"Breast tumour"},{"Variation":"COSV53130164","description":"Large intestine tumour","location":"17:75706389-75706389","ontology_accessions":["EFO:0004142","HP:0100834"],"source":"COSMIC"},{"source":"COSMIC","Variation":"COSV106093572","description":"Haematopoietic and lymphoid tissue tumour","location":"17:75699766-75699766"},{"StructuralVariation":"nsv3919795","description":"See cases","location":"17:75636351-75970744","source":"dbVar"},{"ontology_accessions":["EFO:0003860"],"source":"COSMIC","location":"17:75671593-75671593","description":"Pancreas tumour","Variation":"COSV53130492"},{"Variation":"COSV53127065","description":"Lung tumour","location":"17:75706428-75706428","source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"]},{"Variation":"COSV99502718","description":"Lung tumour","location":"17:75706637-75706637","ontology_accessions":["HP:0100526","MONDO:0021117"],"source":"COSMIC"},{"location":"17:75702505-75702505","description":"Skin tumour","Variation":"COSV53126555","ontology_accessions":["EFO:0004198"],"source":"COSMIC"},{"location":"17:75667444-75667444","attributes":{"external_reference":"PMID:34815255","beta_coefficient":"0.74554795 unit increase","p_value":"2.00e-6"},"description":"Number of clonal hematopoiesis mutations","Variation":"rs8071553","source":"NHGRI-EBI GWAS catalog","ontology_accessions":["EFO:0020949"]},{"location":"17:75668528-75668528","description":"Skin tumour","Variation":"COSV105120449","source":"COSMIC","ontology_accessions":["EFO:0004198"]},{"SupportingStructuralVariation":"nssv13655880","description":"Micrognathia","attributes":{"external_reference":"PMID:20466091"},"location":"17:150733-83084062","ontology_accessions":["HP:0000347"],"source":"DGVa"},{"ontology_accessions":["MONDO:0021066"],"source":"COSMIC","Variation":"COSV53129049","description":"Urinary tract tumour","location":"17:75699821-75699821"},{"ontology_accessions":["EFO:0003860"],"source":"COSMIC","location":"17:75706041-75706041","description":"Pancreas tumour","Variation":"COSV53126992"},{"Variation":"COSV99502625","location":"17:75702551-75702551","description":"Upper aerodigestive tract tumour","source":"COSMIC"},{"description":"Large intestine tumour","location":"17:75706443-75706443","Variation":"COSV53128131","source":"COSMIC","ontology_accessions":["EFO:0004142","HP:0100834"]},{"location":"17:75674686-75674686","description":"Haematopoietic and lymphoid tissue tumour","Variation":"COSV53129702","source":"COSMIC"},{"Variation":"COSV53130837","location":"17:75674406-75674406","description":"Prostate tumour","ontology_accessions":["MONDO:0021259"],"source":"COSMIC"},{"description":"Liver tumour","location":"17:75668600-75668600","Variation":"COSV53128405","ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC"},{"Variation":"COSV53127523","location":"17:75679218-75679218","description":"Breast tumour","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"source":"COSMIC"},{"source":"ClinVar","attributes":{"clinical_significance":"uncertain significance","risk_allele":"T","associated_gene":"SAP30BP","external_id":"RCV004450109.1"},"description":"ClinVar: phenotype not specified","location":"17:75706021-75706021","Variation":"rs2060491587"},{"ontology_accessions":["EFO:0003893"],"source":"COSMIC","Variation":"COSV53127442","description":"Ovary tumour","location":"17:75707407-75707407"},{"location":"17:75691485-75691485","description":"Large intestine tumour","Variation":"COSV53128654","ontology_accessions":["EFO:0004142","HP:0100834"],"source":"COSMIC"},{"location":"17:75704807-75704807","description":"Upper aerodigestive tract tumour","Variation":"COSV53127143","source":"COSMIC"},{"Variation":"COSV53128383","location":"17:75688580-75688580","description":"Stomach tumour","ontology_accessions":["EFO:0003897","HP:0006753"],"source":"COSMIC"},{"source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"],"Variation":"COSV53128306","description":"Liver tumour","location":"17:75688449-75688449"},{"ontology_accessions":["HP:0100526","MONDO:0021117"],"source":"COSMIC","location":"17:75702504-75702504","description":"Lung tumour","Variation":"COSV99502708"},{"source":"COSMIC","ontology_accessions":["MONDO:0021259"],"description":"Prostate tumour","location":"17:75689153-75689153","Variation":"COSV53129135"},{"ontology_accessions":["EFO:0004198"],"source":"COSMIC","Variation":"COSV53129750","description":"Skin tumour","location":"17:75689737-75689737"},{"source":"COSMIC","ontology_accessions":["EFO:0003897","HP:0006753"],"description":"Stomach tumour","location":"17:75702740-75702740","Variation":"COSV99503115"},{"source":"dbVar","StructuralVariation":"nsv3917654","location":"17:69209079-83086677","description":"See cases"},{"location":"17:75693873-75693873","description":"Prostate tumour","Variation":"COSV53129740","ontology_accessions":["MONDO:0021259"],"source":"COSMIC"},{"location":"17:75693455-75693455","description":"Lung tumour","Variation":"COSV107353224","source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"]},{"location":"17:75707899-75707899","description":"Breast tumour","Variation":"COSV53127165","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"source":"COSMIC"},{"Variation":"COSV53130107","description":"Breast tumour","location":"17:75703088-75703088","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"source":"COSMIC"},{"Variation":"COSV53129590","description":"Pancreas tumour","location":"17:75688312-75688312","ontology_accessions":["EFO:0003860"],"source":"COSMIC"},{"location":"17:75693495-75693495","description":"Liver tumour","Variation":"COSV53129832","source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"]},{"source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"],"description":"Lung tumour","location":"17:75706563-75706563","Variation":"COSV53127438"},{"source":"COSMIC","ontology_accessions":["MONDO:0021066"],"location":"17:75667452-75667452","description":"Urinary tract tumour","Variation":"COSV53127426"},{"Variation":"COSV53126544","location":"17:75706442-75706442","description":"Large intestine tumour","source":"COSMIC","ontology_accessions":["EFO:0004142","HP:0100834"]},{"source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"],"description":"Liver tumour","location":"17:75704806-75704806","Variation":"COSV53129913"},{"ontology_accessions":["HP:0000598"],"source":"DGVa","SupportingStructuralVariation":"nssv13642739","attributes":{"external_reference":"PMID:20466091"},"description":"Abnormality of the ear","location":"17:150733-83084062"},{"location":"17:75707406-75707406","description":"Haematopoietic and lymphoid tissue tumour","Variation":"COSV53129705","source":"COSMIC"},{"source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"],"Variation":"COSV99503031","location":"17:75706563-75706563","description":"Lung tumour"},{"Variation":"COSV53130517","location":"17:75680674-75680674","description":"Breast tumour","source":"COSMIC","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"]},{"source":"COSMIC","ontology_accessions":["EFO:0003897","HP:0006753"],"location":"17:75671776-75671776","description":"Stomach tumour","Variation":"COSV99503069"},{"location":"17:75697906-75719450","attributes":{"external_reference":"https://cancer.sanger.ac.uk/cosmic/"},"description":"Ovary tumour","StructuralVariation":"esv3810876","ontology_accessions":["EFO:0003893"],"source":"DGVa"},{"ontology_accessions":["MONDO:0021259"],"source":"COSMIC","description":"Prostate tumour","location":"17:75705012-75705012","Variation":"COSV53130065"},{"source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"],"description":"Liver tumour","location":"17:75672957-75672957","Variation":"COSV53128112"},{"Variation":"COSV99503108","description":"Breast tumour","location":"17:75667370-75667370","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"source":"COSMIC"},{"Variation":"COSV107353242","description":"Small intestine tumour","location":"17:75704051-75704051","source":"COSMIC","ontology_accessions":["HP:0100833","MONDO:0004251"]},{"location":"17:75706148-75706148","description":"Pancreas tumour","Variation":"COSV53127532","ontology_accessions":["EFO:0003860"],"source":"COSMIC"},{"ontology_accessions":["MONDO:0021355"],"source":"COSMIC","Variation":"COSV53127107","location":"17:75697546-75697546","description":"Oesophagus tumour"},{"source":"COSMIC","ontology_accessions":["EFO:0004142","HP:0100834"],"location":"17:75702527-75702527","description":"Large intestine tumour","Variation":"COSV53130176"},{"source":"COSMIC","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"location":"17:75679816-75679816","description":"Breast tumour","Variation":"COSV53127078"},{"attributes":{"clinical_significance":"uncertain significance","risk_allele":"G","associated_gene":"SAP30BP","external_id":"RCV004855851.1"},"location":"17:75668522-75668522","description":"ClinVar: phenotype not specified","Variation":"rs199944352","source":"ClinVar"},{"ontology_accessions":["EFO:0003860"],"source":"COSMIC","Variation":"COSV53129662","location":"17:75684605-75684605","description":"Pancreas tumour"},{"ontology_accessions":["MONDO:0012342"],"source":"dbVar","description":"7q11.23 Duplication Syndrome","location":"17:74722138-76146175","SupportingStructuralVariation":"nssv18841905"},{"Variation":"COSV53128821","description":"Liver tumour","location":"17:75674483-75674483","ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC"},{"SupportingStructuralVariation":"essv16626670","attributes":{"external_reference":"https://cancer.sanger.ac.uk/cosmic/"},"description":"Pancreas tumour","location":"17:75680633-75822189","source":"DGVa","ontology_accessions":["EFO:0003860"]},{"location":"17:75667445-75667445","description":"Lung tumour","Variation":"COSV53126648","source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"]},{"Variation":"COSV99502708","description":"Stomach tumour","location":"17:75702504-75702504","ontology_accessions":["EFO:0003897","HP:0006753"],"source":"COSMIC"},{"source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"],"description":"Lung tumour","location":"17:75706527-75706527","Variation":"COSV99502907"},{"location":"17:75693452-75693452","description":"Central nervous system tumour","Variation":"COSV99502781","ontology_accessions":["EFO:0000326","EFO:1000158"],"source":"COSMIC"},{"Variation":"COSV53127118","description":"Large intestine tumour","location":"17:75704783-75704783","ontology_accessions":["EFO:0004142","HP:0100834"],"source":"COSMIC"},{"Variation":"COSV108808102","location":"17:75684640-75684640","description":"Thyroid tumour","source":"COSMIC"},{"Variation":"COSV53126805","description":"Haematopoietic and lymphoid tissue tumour","location":"17:75670420-75670420","source":"COSMIC"},{"Variation":"COSV53127004","description":"Breast tumour","location":"17:75707533-75707533","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"source":"COSMIC"},{"Variation":"COSV99502638","location":"17:75667343-75667343","description":"Stomach tumour","source":"COSMIC","ontology_accessions":["EFO:0003897","HP:0006753"]},{"ontology_accessions":["EFO:0003860"],"source":"COSMIC","description":"Pancreas tumour","location":"17:75672185-75672185","Variation":"COSV53127563"},{"source":"COSMIC","description":"Haematopoietic and lymphoid tissue tumour","location":"17:75667292-75667292","Variation":"COSV53130029"},{"source":"COSMIC","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"Variation":"COSV53127867","description":"Breast tumour","location":"17:75667988-75667988"},{"ontology_accessions":["EFO:0003860"],"source":"DGVa","SupportingStructuralVariation":"essv16586169","attributes":{"external_reference":"https://cancer.sanger.ac.uk/cosmic/"},"location":"17:75693695-75694096","description":"Pancreas tumour"},{"ontology_accessions":["EFO:0004142","HP:0100834"],"source":"COSMIC","location":"17:75703318-75703318","description":"Large intestine tumour","Variation":"COSV53130252"},{"Variation":"COSV53127485","location":"17:75668601-75668601","description":"Liver tumour","source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"]},{"ontology_accessions":["EFO:0003860"],"source":"COSMIC","description":"Pancreas tumour","location":"17:75690998-75690998","Variation":"COSV53130623"},{"attributes":{"external_reference":"PMID:20466091"},"location":"17:44503316-83137846","description":"Developmental delay AND/OR other significant developmental or morphological phenotypes","StructuralVariation":"nsv2779082","source":"DGVa"},{"location":"17:75668518-75668518","description":"Oesophagus tumour","Variation":"COSV53127034","ontology_accessions":["MONDO:0021355"],"source":"COSMIC"},{"source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"],"description":"Liver tumour","location":"17:75699849-75699849","Variation":"COSV53129627"},{"ontology_accessions":["EFO:0003897","HP:0006753"],"source":"COSMIC","location":"17:75703740-75703740","description":"Stomach tumour","Variation":"COSV99502946"},{"Variation":"COSV99502926","location":"17:75699814-75699814","description":"Endometrium tumour","source":"COSMIC","ontology_accessions":["MONDO:0021251"]},{"ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC","location":"17:75669190-75669190","description":"Liver tumour","Variation":"COSV53126838"},{"location":"17:75699868-75699868","description":"Stomach tumour","Variation":"COSV53129239","ontology_accessions":["EFO:0003897","HP:0006753"],"source":"COSMIC"},{"source":"COSMIC","ontology_accessions":["MONDO:0021355"],"description":"Oesophagus tumour","location":"17:75672817-75672817","Variation":"COSV53127787"},{"Variation":"COSV53127542","location":"17:75670351-75670351","description":"Ovary tumour","ontology_accessions":["EFO:0003893"],"source":"COSMIC"},{"Variation":"COSV53127689","description":"Lung tumour","location":"17:75703263-75703263","source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"]},{"Variation":"COSV53127089","description":"Liver tumour","location":"17:75699634-75699634","source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"]},{"source":"COSMIC","description":"Haematopoietic and lymphoid tissue tumour","location":"17:75698319-75698319","Variation":"COSV53127572"},{"location":"17:75705966-75705966","description":"Skin tumour","Variation":"COSV107353238","ontology_accessions":["EFO:0004198"],"source":"COSMIC"},{"SupportingStructuralVariation":"nssv13654379","attributes":{"external_reference":"PMID:20466091"},"location":"17:66245208-83084062","description":"Developmental delay AND/OR other significant developmental or morphological phenotypes","source":"DGVa"},{"ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"source":"COSMIC","location":"17:75674649-75674649","description":"Breast tumour","Variation":"COSV53130512"},{"description":"Short stature","attributes":{"external_reference":"PMID:20466091"},"location":"17:150733-83084062","StructuralVariation":"nsv2769779","ontology_accessions":["HP:0004322"],"source":"DGVa"},{"location":"17:16854249-83103577","description":"See cases","StructuralVariation":"nsv3914783","source":"dbVar"},{"source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"],"Variation":"COSV53127403","description":"Liver tumour","location":"17:75706292-75706292"},{"source":"COSMIC","ontology_accessions":["EFO:0004142","HP:0100834"],"description":"Large intestine tumour","location":"17:75671856-75671856","Variation":"COSV53128138"},{"location":"17:75705421-75705421","description":"Pancreas tumour","Variation":"COSV53128197","ontology_accessions":["EFO:0003860"],"source":"COSMIC"},{"location":"17:75699869-75699869","description":"Stomach tumour","Variation":"COSV53129252","ontology_accessions":["EFO:0003897","HP:0006753"],"source":"COSMIC"},{"Variation":"COSV107353234","description":"Upper aerodigestive tract tumour","location":"17:75706055-75706055","source":"COSMIC"},{"StructuralVariation":"nsv2777361","attributes":{"external_reference":"PMID:20466091"},"description":"Global developmental delay","location":"17:36321896-83103577","source":"DGVa","ontology_accessions":["HP:0001263"]},{"location":"17:75680128-75680128","description":"Breast tumour","Variation":"COSV53128874","source":"COSMIC","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"]},{"SupportingStructuralVariation":"essv16640256","attributes":{"external_reference":"https://cancer.sanger.ac.uk/cosmic/"},"description":"Ovary tumour","location":"17:75697906-75719450","source":"DGVa","ontology_accessions":["EFO:0003893"]},{"Variation":"COSV53128034","description":"Haematopoietic and lymphoid tissue tumour","location":"17:75692839-75692839","source":"COSMIC"},{"source":"dbVar","SupportingStructuralVariation":"nssv15149908","location":"17:150733-83084062","description":"See cases"},{"location":"17:75706482-75706482","description":"Skin tumour","Variation":"COSV53130728","source":"COSMIC","ontology_accessions":["EFO:0004198"]},{"Variation":"COSV53128093","location":"17:75706492-75706492","description":"Stomach tumour","source":"COSMIC","ontology_accessions":["EFO:0003897","HP:0006753"]},{"source":"COSMIC","ontology_accessions":["EFO:0003860"],"Variation":"COSV53130098","location":"17:75680554-75680554","description":"Pancreas tumour"},{"location":"17:75697126-75697126","description":"Pancreas tumour","Variation":"COSV53129781","source":"COSMIC","ontology_accessions":["EFO:0003860"]},{"Variation":"COSV53126746","location":"17:75687192-75687192","description":"Liver tumour","ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC"},{"source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"],"Variation":"COSV108094429","description":"Lung tumour","location":"17:75668608-75668608"},{"source":"dbVar","SupportingStructuralVariation":"nssv15127168","description":"See cases","location":"17:36382248-83103577"},{"location":"17:75667394-75667394","description":"Prostate tumour","Variation":"COSV53126791","ontology_accessions":["MONDO:0021259"],"source":"COSMIC"},{"location":"17:75690134-75690134","description":"Breast tumour","Variation":"COSV53127838","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"source":"COSMIC"},{"source":"COSMIC","location":"17:75691415-75691415","description":"Haematopoietic and lymphoid tissue tumour","Variation":"COSV53128046"},{"location":"17:75703822-75703822","description":"Haematopoietic and lymphoid tissue tumour","Variation":"COSV99502919","source":"COSMIC"},{"ontology_accessions":["EFO:0004142","HP:0100834"],"source":"COSMIC","Variation":"COSV53127224","description":"Large intestine tumour","location":"17:75706067-75706067"},{"source":"DGVa","ontology_accessions":["HP:0001263"],"SupportingStructuralVariation":"nssv13646079","attributes":{"external_reference":"PMID:20466091"},"location":"17:36321896-83103577","description":"Global developmental delay"},{"attributes":{"external_id":"RCV004266608.1","associated_gene":"SAP30BP","risk_allele":"G","clinical_significance":"uncertain significance"},"location":"17:75671853-75671853","description":"ClinVar: phenotype not specified","Variation":"rs2059912212","source":"ClinVar"},{"source":"ClinVar","Variation":"rs1293461793","location":"17:75667382-75667382","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV004153837.1","associated_gene":"LOC126862642,SAP30BP","risk_allele":"C"},"description":"ClinVar: phenotype not specified"},{"location":"17:75691652-75691652","description":"Stomach tumour","Variation":"COSV99502808","ontology_accessions":["EFO:0003897","HP:0006753"],"source":"COSMIC"},{"source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"],"description":"Liver tumour","location":"17:75675017-75675017","Variation":"COSV53130962"},{"description":"Haematopoietic and lymphoid tissue tumour","location":"17:75686694-75686694","Variation":"COSV53130718","source":"COSMIC"},{"ontology_accessions":["EFO:0003865"],"source":"COSMIC","Variation":"COSV53129171","location":"17:75699362-75699362","description":"Kidney tumour"},{"source":"COSMIC","location":"17:75668518-75668518","description":"Biliary tract tumour","Variation":"COSV99503059"},{"source":"COSMIC","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"location":"17:75674305-75674305","description":"Breast tumour","Variation":"COSV53127828"},{"source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"],"description":"Lung tumour","location":"17:75706418-75706418","Variation":"COSV53127395"},{"SupportingStructuralVariation":"essv16578117","attributes":{"external_reference":"https://cancer.sanger.ac.uk/cosmic/"},"description":"Ovary tumour","location":"17:75478343-75829500","source":"DGVa","ontology_accessions":["EFO:0003893"]},{"location":"17:75700351-75700351","description":"Liver tumour","Variation":"COSV53131066","source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"]},{"ontology_accessions":["MONDO:0021259"],"source":"COSMIC","Variation":"COSV53127743","description":"Prostate tumour","location":"17:75671690-75671690"},{"source":"COSMIC","description":"Biliary tract tumour","location":"17:75693462-75693462","Variation":"COSV53129123"},{"ontology_accessions":["EFO:0010583"],"source":"NHGRI-EBI GWAS catalog","Variation":"rs2898569","description":"AFP levels","attributes":{"external_reference":"PMID:36329257","p_value":"9.00e-6"},"location":"17:75685840-75685840"},{"ontology_accessions":["HP:0001629","MONDO:0002070","Orphanet:1480"],"source":"DGVa","attributes":{"external_reference":"PMID:20466091"},"location":"17:150733-83084062","description":"Ventricular septal defect","StructuralVariation":"nsv2769779"},{"Variation":"COSV53127892","description":"Pancreas tumour","location":"17:75674913-75674913","ontology_accessions":["EFO:0003860"],"source":"COSMIC"},{"ontology_accessions":["MONDO:0021259"],"source":"COSMIC","location":"17:75684971-75684971","description":"Prostate tumour","Variation":"COSV53128374"},{"source":"DGVa","ontology_accessions":["EFO:0003860"],"description":"Pancreas tumour","attributes":{"external_reference":"https://cancer.sanger.ac.uk/cosmic/"},"location":"17:75551221-75706136","SupportingStructuralVariation":"essv16629901"},{"source":"DGVa","ontology_accessions":["HP:0001629","MONDO:0002070","Orphanet:1480"],"attributes":{"external_reference":"PMID:20466091"},"description":"Ventricular septal defect","location":"17:150733-83084062","SupportingStructuralVariation":"nssv13655880"},{"location":"17:75701831-75701831","description":"Pancreas tumour","Variation":"COSV53127451","ontology_accessions":["EFO:0003860"],"source":"COSMIC"},{"ontology_accessions":["EFO:0003865"],"source":"COSMIC","Variation":"COSV53129197","description":"Kidney tumour","location":"17:75706036-75706036"},{"Variation":"COSV53128046","location":"17:75691415-75691415","description":"Breast tumour","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"source":"COSMIC"},{"description":"Urinary tract tumour","location":"17:75696111-75696111","Variation":"COSV105120448","ontology_accessions":["MONDO:0021066"],"source":"COSMIC"},{"source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"],"location":"17:75695518-75695518","description":"Liver tumour","Variation":"COSV53128962"},{"Variation":"COSV53128319","location":"17:75687957-75687956","description":"Biliary tract tumour","source":"COSMIC"},{"ontology_accessions":["HP:0100526","MONDO:0021117"],"source":"COSMIC","Variation":"COSV53126778","location":"17:75706023-75706023","description":"Lung tumour"},{"SupportingStructuralVariation":"nssv15127236","description":"See cases","location":"17:16854249-83103577","source":"dbVar"},{"description":"Haematopoietic and lymphoid tissue tumour","location":"17:75693541-75693541","Variation":"COSV53127799","source":"COSMIC"},{"location":"17:44503316-83137846","description":"See cases","StructuralVariation":"nsv3909511","source":"dbVar"},{"SupportingStructuralVariation":"nssv577610","location":"17:75636351-75970744","description":"Obesity","source":"DGVa","ontology_accessions":["EFO:0001073","HP:0001513","HP:0010982","HP:0012340","Orphanet:71529"]},{"location":"17:75707411-75707411","description":"Lung tumour","Variation":"COSV53128142","source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"]},{"location":"17:75706370-75706370","description":"Central nervous system tumour","Variation":"COSV53129876","ontology_accessions":["EFO:0000326","EFO:1000158"],"source":"COSMIC"},{"location":"17:75706590-75706590","description":"Urinary tract tumour","Variation":"COSV99503028","source":"COSMIC","ontology_accessions":["MONDO:0021066"]},{"attributes":{"external_reference":"PMID:20466091"},"location":"17:69916435-83102552","description":"Global developmental delay","SupportingStructuralVariation":"nssv3396457","source":"DGVa","ontology_accessions":["HP:0001263"]},{"ontology_accessions":["EFO:0004142","HP:0100834"],"source":"COSMIC","Variation":"COSV53130629","description":"Large intestine tumour","location":"17:75674697-75674697"},{"location":"17:150733-83084062","description":"See cases","StructuralVariation":"nsv3907261","source":"dbVar"},{"source":"DGVa","ontology_accessions":["EFO:0003893"],"StructuralVariation":"esv3755139","description":"Ovary tumour","attributes":{"external_reference":"https://cancer.sanger.ac.uk/cosmic/"},"location":"17:75478343-75829500"},{"Variation":"COSV105120447","location":"17:75667912-75667912","description":"Urinary tract tumour","ontology_accessions":["MONDO:0021066"],"source":"COSMIC"},{"Variation":"COSV53127733","location":"17:75671898-75671898","description":"Large intestine tumour","ontology_accessions":["EFO:0004142","HP:0100834"],"source":"COSMIC"},{"ontology_accessions":["HP:0001159","MONDO:0021002","Orphanet:90025"],"source":"DGVa","SupportingStructuralVariation":"nssv13655880","attributes":{"external_reference":"PMID:20466091"},"description":"Syndactyly","location":"17:150733-83084062"},{"location":"17:75672027-75672027","description":"Lung tumour","Variation":"COSV53130695","source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"]},{"ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC","Variation":"COSV53130811","location":"17:75705798-75705798","description":"Liver tumour"},{"source":"dbVar","location":"17:69006274-83084062","description":"See cases","StructuralVariation":"nsv3906075"},{"location":"17:75693282-75693282","description":"Prostate tumour","Variation":"COSV53128414","ontology_accessions":["MONDO:0021259"],"source":"COSMIC"},{"attributes":{"clinical_significance":"uncertain significance","associated_gene":"SAP30BP","risk_allele":"A","external_id":"RCV004099184.1"},"location":"17:75671825-75671825","description":"ClinVar: phenotype not specified","Variation":"rs374805218","source":"ClinVar"},{"description":"Breast tumour","location":"17:75680240-75680240","Variation":"COSV53126630","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"source":"COSMIC"},{"Variation":"COSV53128154","description":"Liver tumour","location":"17:75706009-75706009","ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC"},{"Variation":"rs143739015","location":"17:75706053-75706053","attributes":{"clinical_significance":"uncertain significance","risk_allele":"G","associated_gene":"SAP30BP","external_id":"RCV004331775.1"},"description":"ClinVar: phenotype not specified","source":"ClinVar"},{"attributes":{"external_reference":"PMID:20466091"},"description":"Developmental delay AND/OR other significant developmental or morphological phenotypes","location":"17:44503316-83137846","SupportingStructuralVariation":"nssv13653908","source":"DGVa"},{"Variation":"COSV99502679","description":"Cervix tumour","location":"17:75703817-75703817","source":"COSMIC","ontology_accessions":["MONDO:0021230"]},{"description":"Kidney tumour","location":"17:75686763-75686763","Variation":"COSV53127766","ontology_accessions":["EFO:0003865"],"source":"COSMIC"},{"description":"Haematopoietic and lymphoid tissue tumour","location":"17:75668370-75668370","Variation":"COSV53130158","source":"COSMIC"},{"description":"Large intestine tumour","location":"17:75668604-75668606","Variation":"COSV53128918","ontology_accessions":["EFO:0004142","HP:0100834"],"source":"COSMIC"},{"location":"17:75706422-75706422","description":"Large intestine tumour","Variation":"COSV53127131","source":"COSMIC","ontology_accessions":["EFO:0004142","HP:0100834"]},{"source":"ClinVar","Variation":"rs1555715580","attributes":{"clinical_significance":"uncertain significance","associated_gene":"LOC126862642,SAP30BP","risk_allele":"C","external_id":"RCV004450111.1"},"description":"ClinVar: phenotype not specified","location":"17:75667380-75667380"},{"source":"COSMIC","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"Variation":"COSV53130240","description":"Breast tumour","location":"17:75690692-75690692"},{"source":"COSMIC","ontology_accessions":["MONDO:0021355"],"location":"17:75707729-75707729","description":"Oesophagus tumour","Variation":"COSV53126944"},{"ontology_accessions":["EFO:0003897","HP:0006753"],"source":"COSMIC","location":"17:75706407-75706407","description":"Stomach tumour","Variation":"COSV106093573"},{"source":"COSMIC","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"location":"17:75674547-75674547","description":"Breast tumour","Variation":"COSV53128687"},{"Variation":"COSV53126893","description":"Breast tumour","location":"17:75686435-75686435","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"source":"COSMIC"},{"source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"],"Variation":"COSV53128674","description":"Liver tumour","location":"17:75689424-75689424"},{"source":"COSMIC","ontology_accessions":["EFO:0004198"],"Variation":"COSV53126915","description":"Skin tumour","location":"17:75667319-75667319"},{"Variation":"COSV53127311","description":"Prostate tumour","location":"17:75670872-75670872","ontology_accessions":["MONDO:0021259"],"source":"COSMIC"},{"description":"Large intestine tumour","location":"17:75706492-75706492","Variation":"COSV53128093","ontology_accessions":["EFO:0004142","HP:0100834"],"source":"COSMIC"},{"location":"17:75667461-75667461","description":"Biliary tract tumour","Variation":"COSV99503125","source":"COSMIC"},{"ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC","Variation":"COSV53127914","description":"Liver tumour","location":"17:75693273-75693273"},{"source":"COSMIC","ontology_accessions":["MONDO:0021355"],"Variation":"COSV53126664","location":"17:75702543-75702543","description":"Oesophagus tumour"},{"source":"COSMIC","ontology_accessions":["EFO:0003860"],"description":"Pancreas tumour","location":"17:75676587-75676587","Variation":"COSV53128868"},{"source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"],"Variation":"COSV53126906","location":"17:75706409-75706409","description":"Lung tumour"},{"Variation":"COSV53130308","location":"17:75680953-75680953","description":"Liver tumour","ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC"},{"source":"COSMIC","Variation":"COSV99502661","location":"17:75706548-75706548","description":"Upper aerodigestive tract tumour"},{"ontology_accessions":["HP:0100526","MONDO:0021117"],"source":"COSMIC","Variation":"COSV53128907","location":"17:75667433-75667433","description":"Lung tumour"},{"source":"COSMIC","Variation":"COSV108094559","location":"17:75680018-75680018","description":"Haematopoietic and lymphoid tissue tumour"},{"source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"],"Variation":"COSV53129994","description":"Liver tumour","location":"17:75707535-75707535"},{"description":"Liver tumour","location":"17:75678687-75678687","Variation":"COSV53127292","source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"]},{"source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"],"Variation":"COSV107353227","description":"Lung tumour","location":"17:75706049-75706049"},{"Variation":"COSV53130290","location":"17:75699141-75699141","description":"Prostate tumour","ontology_accessions":["MONDO:0021259"],"source":"COSMIC"},{"ontology_accessions":["EFO:0004142","HP:0100834"],"source":"COSMIC","description":"Large intestine tumour","location":"17:75704807-75704807","Variation":"COSV53127143"},{"source":"COSMIC","ontology_accessions":["EFO:0003897","HP:0006753"],"Variation":"COSV99502909","location":"17:75703225-75703225","description":"Stomach tumour"},{"ontology_accessions":["EFO:0003897","HP:0006753"],"source":"COSMIC","description":"Stomach tumour","location":"17:75699898-75699898","Variation":"COSV99502675"},{"location":"17:75682780-75682780","description":"Skin tumour","Variation":"COSV53130151","ontology_accessions":["EFO:0004198"],"source":"COSMIC"},{"description":"Urinary tract tumour","location":"17:75667444-75667444","Variation":"COSV53129977","ontology_accessions":["MONDO:0021066"],"source":"COSMIC"},{"Variation":"COSV53130329","description":"Ovary tumour","location":"17:75702536-75702536","source":"COSMIC","ontology_accessions":["EFO:0003893"]},{"source":"NHGRI-EBI GWAS catalog","ontology_accessions":["HP:0003470"],"attributes":{"risk_allele":"G","p_value":"2.00e-12","external_reference":"PMID:39024449","beta_coefficient":"2.051 unit decrease"},"location":"17:75692493-75692493","description":"Other paralytic syndromes PheCode 344","Variation":"rs182904541"},{"ontology_accessions":["HP:0004322"],"source":"DGVa","attributes":{"external_reference":"PMID:20466091"},"description":"Short stature","location":"17:150733-83084062","SupportingStructuralVariation":"nssv13642739"},{"Variation":"COSV53128296","location":"17:75670590-75670590","description":"Liver tumour","ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC"},{"ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC","Variation":"COSV53127412","location":"17:75686772-75686772","description":"Liver tumour"},{"description":"Central nervous system tumour","location":"17:75673311-75673311","Variation":"COSV53127857","source":"COSMIC","ontology_accessions":["EFO:0000326","EFO:1000158"]},{"description":"See cases","location":"17:150733-83084062","SupportingStructuralVariation":"nssv15152170","source":"dbVar"},{"Variation":"COSV53127207","description":"Haematopoietic and lymphoid tissue tumour","location":"17:75679063-75679063","source":"COSMIC"},{"Variation":"COSV53126516","location":"17:75706966-75706966","description":"Liver tumour","ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC"},{"location":"17:75705969-75705969","description":"Liver tumour","Variation":"COSV53129680","source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"]},{"source":"COSMIC","ontology_accessions":["MONDO:0021066"],"Variation":"COSV53129059","description":"Urinary tract tumour","location":"17:75699852-75699852"},{"Variation":"COSV53130759","location":"17:75667250-75667250","description":"Ovary tumour","ontology_accessions":["EFO:0003893"],"source":"COSMIC"},{"source":"DGVa","ontology_accessions":["EFO:0003893"],"SupportingStructuralVariation":"essv16640255","attributes":{"external_reference":"https://cancer.sanger.ac.uk/cosmic/"},"location":"17:75697906-75719450","description":"Ovary tumour"},{"description":"Adrenal gland tumour","location":"17:75706461-75706461","Variation":"COSV53129801","source":"COSMIC","ontology_accessions":["EFO:0003850"]},{"location":"17:75699787-75699787","description":"Skin tumour","Variation":"COSV105120393","source":"COSMIC","ontology_accessions":["EFO:0004198"]},{"ontology_accessions":["EFO:0003865"],"source":"COSMIC","description":"Kidney tumour","location":"17:75707311-75707311","Variation":"COSV53126909"},{"source":"ClinVar","Variation":"rs141727230","location":"17:75671838-75671838","attributes":{"associated_gene":"SAP30BP","risk_allele":"C","external_id":"RCV004335152.1","clinical_significance":"uncertain significance"},"description":"ClinVar: phenotype not specified"},{"description":"Kidney tumour","location":"17:75676913-75676913","Variation":"COSV53127968","ontology_accessions":["EFO:0003865"],"source":"COSMIC"},{"description":"Developmental delay AND/OR other significant developmental or morphological phenotypes","location":"17:69209079-83086677","SupportingStructuralVariation":"nssv578748","source":"DGVa"},{"source":"COSMIC","ontology_accessions":["EFO:0003860"],"location":"17:75690997-75690997","description":"Pancreas tumour","Variation":"COSV53130615"},{"Variation":"COSV53127276","description":"Breast tumour","location":"17:75700756-75700756","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"source":"COSMIC"},{"location":"17:75668552-75668551","description":"Large intestine tumour","Variation":"COSV53126715","ontology_accessions":["EFO:0004142","HP:0100834"],"source":"COSMIC"},{"SupportingStructuralVariation":"nssv3396457","attributes":{"external_reference":"PMID:20466091"},"location":"17:69916435-83102552","description":"Short stature","source":"DGVa","ontology_accessions":["HP:0004322"]},{"location":"17:75699523-75699522","description":"Biliary tract tumour","Variation":"COSV53127472","source":"COSMIC"},{"ontology_accessions":["EFO:0003860"],"source":"COSMIC","Variation":"COSV53129930","description":"Pancreas tumour","location":"17:75682818-75682818"},{"ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC","location":"17:75668476-75668476","description":"Liver tumour","Variation":"COSV53127355"},{"source":"COSMIC","ontology_accessions":["EFO:0003897","HP:0006753"],"description":"Stomach tumour","location":"17:75706553-75706553","Variation":"COSV99502598"},{"location":"17:75691993-75691993","description":"Haematopoietic and lymphoid tissue tumour","Variation":"COSV53126571","source":"COSMIC"},{"ontology_accessions":["MONDO:0021251"],"source":"COSMIC","location":"17:75707521-75707521","description":"Endometrium tumour","Variation":"COSV99502832"},{"source":"COSMIC","location":"17:75677519-75677519","description":"Haematopoietic and lymphoid tissue tumour","Variation":"COSV53128881"},{"Variation":"COSV53128392","description":"Lung tumour","location":"17:75706468-75706468","source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"]},{"description":"Liver tumour","location":"17:75697897-75697897","Variation":"COSV53130020","ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC"},{"ontology_accessions":["EFO:0000495","HP:0001511"],"source":"DGVa","description":"Intrauterine growth retardation","attributes":{"external_reference":"PMID:20466091"},"location":"17:150733-83084062","StructuralVariation":"nsv2769779"},{"ontology_accessions":["EFO:0003860"],"source":"DGVa","StructuralVariation":"esv3798721","attributes":{"external_reference":"https://cancer.sanger.ac.uk/cosmic/"},"description":"Pancreas tumour","location":"17:75680633-75822189"},{"Variation":"rs759867661","attributes":{"clinical_significance":"uncertain significance","external_id":"RCV004091601.1","risk_allele":"T","associated_gene":"LOC126862644,SAP30BP"},"location":"17:75706442-75706442","description":"ClinVar: phenotype not specified","source":"ClinVar"},{"source":"COSMIC","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"location":"17:75692043-75692043","description":"Breast tumour","Variation":"COSV53129144"},{"source":"COSMIC","ontology_accessions":["EFO:0004198"],"location":"17:75668477-75668476","description":"Skin tumour","Variation":"COSV53126676"},{"source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"],"Variation":"COSV53128280","location":"17:75697197-75697197","description":"Liver tumour"},{"source":"COSMIC","ontology_accessions":["EFO:0003897","HP:0006753"],"Variation":"COSV99503132","description":"Stomach tumour","location":"17:75699961-75699961"},{"Variation":"COSV53127159","description":"Breast tumour","location":"17:75707708-75707708","source":"COSMIC","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"]},{"source":"DGVa","ontology_accessions":["EFO:0001073","HP:0001513","HP:0010982","HP:0012340","Orphanet:71529"],"location":"17:75636351-75970744","description":"Obesity","StructuralVariation":"nsv532136"},{"location":"17:75706841-75706841","description":"Liver tumour","Variation":"COSV53130486","source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"]},{"ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"source":"COSMIC","location":"17:75671288-75671288","description":"Breast tumour","Variation":"COSV53128507"},{"ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC","location":"17:75697029-75697029","description":"Liver tumour","Variation":"COSV53128953"},{"source":"dbVar","description":"See cases","location":"17:69916435-83102552","StructuralVariation":"nsv3919156"},{"ontology_accessions":["HP:0100526","MONDO:0021117"],"source":"COSMIC","location":"17:75703308-75703308","description":"Lung tumour","Variation":"COSV99502852"},{"Variation":"COSV53130892","description":"Prostate tumour","location":"17:75669263-75669263","source":"COSMIC","ontology_accessions":["MONDO:0021259"]},{"description":"Large intestine tumour","location":"17:75706161-75706161","Variation":"COSV53127592","source":"COSMIC","ontology_accessions":["EFO:0004142","HP:0100834"]},{"Variation":"COSV107353243","location":"17:75706173-75706173","description":"Small intestine tumour","ontology_accessions":["HP:0100833","MONDO:0004251"],"source":"COSMIC"},{"ontology_accessions":["EFO:0004198"],"source":"COSMIC","Variation":"COSV53130144","description":"Skin tumour","location":"17:75682774-75682774"},{"source":"NHGRI-EBI GWAS catalog","ontology_accessions":["EFO:1001250"],"description":"Rotator cuff tears","attributes":{"external_reference":"PMID:26350878","associated_gene":"SAP30BP","p_value":"4.00e-9"},"location":"17:75691415-75691415","Variation":"rs820218"},{"Variation":"COSV99502823","location":"17:75706556-75706556","description":"Stomach tumour","ontology_accessions":["EFO:0003897","HP:0006753"],"source":"COSMIC"},{"Variation":"COSV99502926","location":"17:75699814-75699814","description":"Prostate tumour","ontology_accessions":["MONDO:0021259"],"source":"COSMIC"},{"Variation":"COSV99502598","location":"17:75706553-75706553","description":"Endometrium tumour","source":"COSMIC","ontology_accessions":["MONDO:0021251"]},{"source":"COSMIC","Variation":"COSV53127803","description":"Biliary tract tumour","location":"17:75681566-75681571"},{"Variation":"COSV99502626","location":"17:75702516-75702516","description":"Lung tumour","ontology_accessions":["HP:0100526","MONDO:0021117"],"source":"COSMIC"},{"ontology_accessions":["EFO:1000541"],"source":"COSMIC","Variation":"COSV106424434","description":"Soft tissue tumour","location":"17:75670236-75670236"},{"source":"dbVar","location":"17:69209079-83086677","description":"See cases","SupportingStructuralVariation":"nssv15147088"},{"source":"COSMIC","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"Variation":"COSV99502783","description":"Breast tumour","location":"17:75668539-75668539"},{"Variation":"COSV99502612","location":"17:75668546-75668546","description":"Lung tumour","ontology_accessions":["HP:0100526","MONDO:0021117"],"source":"COSMIC"},{"ontology_accessions":["EFO:0004198"],"source":"COSMIC","Variation":"COSV99503068","location":"17:75693469-75693469","description":"Skin tumour"},{"source":"COSMIC","ontology_accessions":["EFO:0004142","HP:0100834"],"Variation":"COSV99503105","description":"Large intestine tumour","location":"17:75706022-75706022"},{"location":"17:16854249-83103577","attributes":{"external_reference":"PMID:20466091"},"description":"Global developmental delay","SupportingStructuralVariation":"nssv13646060","ontology_accessions":["HP:0001263"],"source":"DGVa"},{"source":"COSMIC","ontology_accessions":["EFO:0004142","HP:0100834"],"Variation":"COSV53128834","location":"17:75706497-75706497","description":"Large intestine tumour"},{"source":"COSMIC","ontology_accessions":["MONDO:0021066"],"description":"Urinary tract tumour","location":"17:75683589-75683589","Variation":"COSV105120431"},{"source":"DGVa","ontology_accessions":["EFO:0003860"],"description":"Pancreas tumour","attributes":{"external_reference":"https://cancer.sanger.ac.uk/cosmic/"},"location":"17:75693695-75694096","StructuralVariation":"esv3762337"},{"description":"Breast tumour","location":"17:75697581-75697581","Variation":"COSV53130703","source":"COSMIC","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"]},{"source":"COSMIC","ontology_accessions":["MONDO:0021259"],"Variation":"COSV53129732","location":"17:75682044-75682043","description":"Prostate tumour"},{"location":"17:75669806-75669806","description":"Breast tumour","Variation":"COSV53126826","ontology_accessions":["EFO:0003869","HP:0100013","MONDO:0007254"],"source":"COSMIC"},{"Variation":"COSV99502672","location":"17:75667246-75667246","description":"Stomach tumour","ontology_accessions":["EFO:0003897","HP:0006753"],"source":"COSMIC"},{"source":"COSMIC","Variation":"COSV53127217","location":"17:75696557-75696557","description":"Haematopoietic and lymphoid tissue tumour"},{"source":"COSMIC","ontology_accessions":["EFO:0000326","EFO:1000158"],"Variation":"COSV53128770","description":"Central nervous system tumour","location":"17:75687856-75687856"},{"ontology_accessions":["EFO:0003865"],"source":"COSMIC","Variation":"COSV53127549","location":"17:75689019-75689019","description":"Kidney tumour"},{"source":"COSMIC","ontology_accessions":["EFO:0003897","HP:0006753"],"location":"17:75705943-75705943","description":"Stomach tumour","Variation":"COSV99502886"},{"description":"Skin tumour","location":"17:75702536-75702536","Variation":"COSV104532752","ontology_accessions":["EFO:0004198"],"source":"COSMIC"},{"location":"17:75690762-75690762","description":"Oesophagus tumour","Variation":"COSV108094430","source":"COSMIC","ontology_accessions":["MONDO:0021355"]},{"ontology_accessions":["EFO:0003897","HP:0006753"],"source":"COSMIC","Variation":"COSV53129123","location":"17:75693462-75693462","description":"Stomach tumour"},{"source":"COSMIC","Variation":"COSV53126676","location":"17:75668477-75668476","description":"Biliary tract tumour"},{"source":"DGVa","ontology_accessions":["HP:0010442","MONDO:0021003","Orphanet:2913"],"SupportingStructuralVariation":"nssv13642739","attributes":{"external_reference":"PMID:20466091"},"location":"17:150733-83084062","description":"Polydactyly"},{"Variation":"COSV53128311","location":"17:75691398-75691398","description":"Large intestine tumour","source":"COSMIC","ontology_accessions":["EFO:0004142","HP:0100834"]},{"location":"17:75668642-75668642","description":"Stomach tumour","Variation":"COSV99503167","source":"COSMIC","ontology_accessions":["EFO:0003897","HP:0006753"]},{"ontology_accessions":["EFO:0003860"],"source":"COSMIC","description":"Pancreas tumour","location":"17:75681715-75681715","Variation":"COSV53130118"},{"Variation":"COSV53130771","location":"17:75681788-75681788","description":"Liver tumour","source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"]},{"ontology_accessions":["HP:0001263"],"source":"DGVa","description":"Global developmental delay","attributes":{"external_reference":"PMID:20466091"},"location":"17:69916435-83102552","StructuralVariation":"nsv993419"},{"description":"Haematopoietic and lymphoid tissue tumour","location":"17:75703376-75703376","Variation":"COSV53129089","source":"COSMIC"},{"attributes":{"external_reference":"PMID:20466091"},"description":"Abnormality of the ear","location":"17:150733-83084062","StructuralVariation":"nsv2769779","ontology_accessions":["HP:0000598"],"source":"DGVa"},{"Variation":"COSV53130796","description":"Liver tumour","location":"17:75668785-75668785","source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"]},{"source":"DGVa","ontology_accessions":["EFO:0003893"],"SupportingStructuralVariation":"essv16638195","description":"Ovary tumour","attributes":{"external_reference":"https://cancer.sanger.ac.uk/cosmic/"},"location":"17:75023532-75783913"},{"Variation":"COSV53126705","location":"17:75699846-75699846","description":"Large intestine tumour","source":"COSMIC","ontology_accessions":["EFO:0004142","HP:0100834"]},{"source":"dbVar","description":"See cases","location":"17:69916435-83102552","SupportingStructuralVariation":"nssv15146769"},{"source":"COSMIC","ontology_accessions":["EFO:0003897","HP:0006753"],"Variation":"COSV53128368","description":"Stomach tumour","location":"17:75703860-75703860"},{"Variation":"COSV53130092","description":"Large intestine tumour","location":"17:75702456-75702456","ontology_accessions":["EFO:0004142","HP:0100834"],"source":"COSMIC"},{"ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC","Variation":"COSV53129719","description":"Liver tumour","location":"17:75704757-75704757"},{"ontology_accessions":["EFO:0003897","HP:0006753"],"source":"COSMIC","description":"Stomach tumour","location":"17:75668627-75668627","Variation":"COSV53128165"},{"source":"COSMIC","ontology_accessions":["EFO:0003860"],"description":"Pancreas tumour","location":"17:75696382-75696382","Variation":"COSV53129151"},{"source":"COSMIC","ontology_accessions":["HP:0002896","MONDO:0024477"],"Variation":"COSV53130668","location":"17:75681049-75681049","description":"Liver tumour"},{"source":"COSMIC","ontology_accessions":["MONDO:0021259"],"location":"17:75684774-75684774","description":"Prostate tumour","Variation":"COSV53130205"},{"description":"Height","attributes":{"external_reference":"PMID:36224396","beta_coefficient":"0.0065 unit decrease","p_value":"4.00e-22","risk_allele":"T"},"location":"17:75685246-75685246","Variation":"rs820225","source":"NHGRI-EBI GWAS catalog","ontology_accessions":["EFO:0004339","OBA:VT0001253"]},{"location":"17:75703859-75703859","description":"Skin tumour","Variation":"COSV53126956","ontology_accessions":["EFO:0004198"],"source":"COSMIC"},{"description":"Large intestine tumour","location":"17:75699702-75699702","Variation":"COSV53126580","ontology_accessions":["EFO:0004142","HP:0100834"],"source":"COSMIC"},{"description":"Prostate tumour","location":"17:75707953-75707959","Variation":"COSV53129224","ontology_accessions":["MONDO:0021259"],"source":"COSMIC"},{"source":"DGVa","ontology_accessions":["HP:0001159","MONDO:0021002","Orphanet:90025"],"StructuralVariation":"nsv2769779","attributes":{"external_reference":"PMID:20466091"},"description":"Syndactyly","location":"17:150733-83084062"},{"source":"COSMIC","ontology_accessions":["EFO:1000541"],"Variation":"COSV106424462","location":"17:75699265-75699265","description":"Soft tissue tumour"},{"Variation":"COSV108808090","description":"Oesophagus tumour","location":"17:75690675-75690675","ontology_accessions":["MONDO:0021355"],"source":"COSMIC"},{"source":"COSMIC","description":"Biliary tract tumour","location":"17:75695790-75695790","Variation":"COSV53131015"},{"ontology_accessions":["HP:0002896","MONDO:0024477"],"source":"COSMIC","Variation":"COSV53130787","description":"Liver tumour","location":"17:75704180-75704180"},{"ontology_accessions":["EFO:1000541"],"source":"COSMIC","description":"Soft tissue tumour","location":"17:75667320-75667320","Variation":"COSV99503052"},{"source":"COSMIC","ontology_accessions":["EFO:0003897","HP:0006753"],"Variation":"COSV53127304","description":"Stomach tumour","location":"17:75703836-75703836"},{"ontology_accessions":["EFO:0003897","HP:0006753"],"source":"COSMIC","Variation":"COSV99502645","description":"Stomach tumour","location":"17:75671917-75671917"},{"Variation":"COSV53130689","location":"17:75699835-75699835","description":"Large intestine tumour","source":"COSMIC","ontology_accessions":["EFO:0004142","HP:0100834"]},{"location":"17:75679888-75679888","description":"Soft tissue tumour","Variation":"COSV106424466","ontology_accessions":["EFO:1000541"],"source":"COSMIC"},{"description":"Lung tumour","location":"17:75702401-75702401","Variation":"COSV53128174","source":"COSMIC","ontology_accessions":["HP:0100526","MONDO:0021117"]},{"Variation":"rs756353200","attributes":{"risk_allele":"G","associated_gene":"SAP30BP","external_id":"RCV004294547.1","clinical_significance":"uncertain significance"},"location":"17:75703848-75703848","description":"ClinVar: phenotype not specified","source":"ClinVar"},{"source":"COSMIC","ontology_accessions":["EFO:0000326","EFO:1000158"],"Variation":"COSV53130081","description":"Central nervous system tumour","location":"17:75703318-75703318"}]