{
    "uniprot_canonical_ac": "A4D0S4-1", 
    "ptm_annotation": [], 
    "sequence": {
        "header": "sp|A4D0S4-1|LAMB4_HUMAN Isoform 1 of Laminin subunit beta-4  OS=Homo sapiens OX=9606 GN=LAMB4 PE=2 SV=1 CANONICAL=A4D0S4-1", 
        "length": 1761, 
        "sequence": "MQFQLTLFLHLGWLSYSKAQDDCNRGACHPTTGDLLVGRNTQLMASSTCGLSRAQKYCILSYLEGEQKCFICDSRFPYDPYDQPNSHTIENVIVSFEPDREKKWWQSENGLDHVSIRLDLEALFRFSHLILTFKTFRPAAMLVERSTDYGHNWKVFKYFAKDCATSFPNITSGQAQGVGDIVCDSKYSDIEPSTGGEVVLKVLDPSFEIENPYSPYIQDLVTLTNLRINFTKLHTLGDALLGRRQNDSLDKYYYALYEMIVRGSCFCNGHASECRPMQKMRGDVFSPPGMVHGQCVCQHNTDGPNCERCKDFFQDAPWRPAADLQDNACRSCSCNSHSSRCHFDMTTYLASGGLSGGVCEDCQHNTEGQHCDRCRPLFYRDPLKTISDPYACIPCECDPDGTISGGICVSHSDPALGSVAGQCLCKENVEGAKCDQCKPNHYGLSATDPLGCQPCDCNPLGSLPFLTCDVDTGQCLCLSYVTGAHCEECTVGYWGLGNHLHGCSPCDCDIGGAYSNVCSPKNGQCECRPHVTGRSCSEPAPGYFFAPLNFYLYEAEEATTLQGLAPLGSETFGQSPAVHVVLGEPVPGNPVTWTGPGFARVLPGAGLRFAVNNIPFPVDFTIAIHYETQSAADWTVQIVVNPPGGSEHCIPKTLQSKPQSFALPAATRIMLLPTPICLEPDVQYSIDVYFSQPLQGESHAHSHVLVDSLGLIPQINSLENFCSKQDLDEYQLHNCVEIASAMGPQVLPGACERLIISMSAKLHDGAVACKCHPQGSVGSSCSRLGGQCQCKPLVVGRCCDRCSTGSYDLGHHGCHPCHCHPQGSKDTVCDQVTGQCPCHGEVSGRRCDRCLAGYFGFPSCHPCPCNRFAELCDPETGSCFNCGGFTTGRNCERCIDGYYGNPSSGQPCRPCLCPDDPSSNQYFAHSCYQNLWSSDVICNCLQGYTGTQCGECSTGFYGNPRISGAPCQPCACNNNIDVTDPESCSRVTGECLRCLHNTQGANCQLCKPGHYGSALNQTCRRCSCHASGVSPMECPPGGGACLCDPVTGACPCLPNVTGLACDRCADGYWNLVPGRGCQSCDCDPRTSQSSHCDQLTGQCPCKLGYGGKRCSECQENYYGDPPGRCIPCDCNRAGTQKPICDPDTGMCRCREGVSGQRCDRCARGHSQEFPTCLQCHLCFDQWDHTISSLSKAVQGLMRLAANMEDKRETLPVCEADFKDLRGNVSEIERILKHPVFPSGKFLKVKDYHDSVRRQIMQLNEQLKAVYEFQDLKDTIERAKNEADLLLEDLQEEIDLQSSVLNASIADSSENIKKYYHISSSAEKKINETSSTINTSANTRNDLLTILDTLTSKGNLSLERLKQIKIPDIQILNEKVCGDPGNVPCVPLPCGGALCTGRKGHRKCRGPGCHGSLTLSTNALQKAQEAKSIIRNLDKQVRGLKNQIESISEQAEVSKNNALQLREKLGNIRNQSDSEEENINLFIKKVKNFLLEENVPPEDIEKVANGVLDIHLPIPSQNLTDELVKIQKHMQLCEDYRTDENRLNEEADGAQKLLVKAKAAEKAANILLNLDKTLNQLQQAQITQGRANSTITQLTANITKIKKNVLQAENQTREMKSELELAKQRSGLEDGLSLLQTKLQRHQDHAVNAKVQAESAQHQAGSLEKEFVELKKQYAILQRKTSTTGLTKETLGKVKQLKDAAEKLAGDTEAKIRRITDLERKIQDLNLSRQAKADQLRILEDQVVAIKNEIVEQEKKYARCYS"
    }, 
    "uniprot_id": "LAMB4_HUMAN", 
    "enzyme_annotation": [], 
    "glycation": [], 
    "keywords": [
        "glycoprotein", 
        "predicted.uniprotkb_gly"
    ], 
    "species": [
        {
            "common_name": "man", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A4D0S4", 
                    "id": "A4D0S4", 
                    "database": "UniProtKB"
                }
            ], 
            "name": "Homo sapiens", 
            "taxid": 9606
        }
    ], 
    "publication": [
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/25787250", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "25787250"
                }
            ], 
            "title": "Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.", 
            "journal": "Proc. Natl. Acad. Sci. U.S.A.", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A4D0S4", 
                    "id": "A4D0S4", 
                    "database": "UniProtKB"
                }
            ], 
            "authors": "Akerstroem G., Bjoerklund P., Carling T., Choi M., Cromer M.K., Fonseca A.L., Hellman P., Kenney B., Korah R.M., Kunstman J.W., Lifton R.P., Malchoff C.D., Mane S., Nelson-Williams C., Overton J.D., Stalberg P., Westin G.", 
            "date": "2015"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/28595269", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "28595269"
                }
            ], 
            "title": "Identification of a rare LAMB4 variant associated with familial diverticulitis through exome sequencing.", 
            "journal": "Human molecular genetics", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", 
                    "id": "NP_001304975.1", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Coble JL, Sheldon KE, Yue F, Salameh TJ, Harris LR III, Deiling S, Ruggiero FM, Eshelman MA, Yochum GS, Koltun WA, Gerhard GS, Broach JR", 
            "date": "2017"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/19401682", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "19401682"
                }
            ], 
            "title": "High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.", 
            "journal": "Molecular psychiatry", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", 
                    "id": "NP_001304975.1", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Maestrini E, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa I, Toma C, Barnby G, Butler H, Winchester L, Scerri TS, Minopoli F, Reichert J, Cai G, Buxbaum JD, Korvatska O, Schellenberg GD, Dawson G, de Bildt A, Minderaa RB, Mulder EJ, Morris AP, Bailey AJ, Monaco AP", 
            "date": "2010"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/21876539", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "21876539"
                }
            ], 
            "title": "Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM.", 
            "journal": "Molecular psychiatry", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", 
                    "id": "NP_001304975.1", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Amin N, Byrne E, Johnson J, Chenevix-Trench G, Walter S, Nolte IM, Vink JM, Rawal R, Mangino M, Teumer A, Keers JC, Verwoert G, Baumeister S, Biffar R, Petersmann A, Dahmen N, Doering A, Isaacs A, Broer L, Wray NR, Montgomery GW, Levy D, Psaty BM, Gudnason V, Chakravarti A, Sulem P, Gudbjartsson DF, Kiemeney LA, Thorsteinsdottir U, Stefansson K, van Rooij FJ, Aulchenko YS, Hottenga JJ, Rivadeneira FR, Hofman A, Uitterlinden AG, Hammond CJ, Shin SY, Ikram A, Witteman JC, Janssens AC, Snieder H, Tiemeier H, Wolfenbuttel BH, Oostra BA, Heath AC, Wichmann E, Spector TD, Grabe HJ, Boomsma DI, Martin NG, van Duijn CM", 
            "date": "2012"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/25257191", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "25257191"
                }
            ], 
            "title": "Laminin gene LAMB4 is somatically mutated and expressionally altered in gastric and colorectal cancers.", 
            "journal": "APMIS : acta pathologica, microbiologica, et immunologica Scandinavica", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", 
                    "id": "NP_001304975.1", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Choi MR, An CH, Yoo NJ, Lee SH", 
            "date": "2015"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/11483367", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "11483367"
                }
            ], 
            "title": "The complete sequence of the human locus for NgCAM-related cell adhesion molecule reveals a novel alternative exon in chick and man and conserved genomic organization for the L1 subfamily.", 
            "journal": "Gene", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", 
                    "id": "NP_001304975.1", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Dry K, Kenwrick S, Rosenthal A, Platzer M", 
            "date": "2001"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/16228230", 
                    "type": [
                        "PubMed"
                    ], 
                    "id": "16228230"
                }
            ], 
            "title": "A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1.", 
            "journal": "Human genetics", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", 
                    "id": "NP_001304975.1", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Schonberger J, Kuhler L, Martins E, Lindner TH, Silva-Cardoso J, Zimmer M", 
            "date": "2005"
        }
    ], 
    "uniprot_ac": "A4D0S4", 
    "site_annotation": [
        {
            "end_pos": 1589, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 1587
        }, 
        {
            "end_pos": 1225, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 1223
        }, 
        {
            "end_pos": 1471, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 1469
        }, 
        {
            "end_pos": 1335, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 1333
        }, 
        {
            "end_pos": 1727, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 1725
        }, 
        {
            "end_pos": 1598, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 1596
        }, 
        {
            "end_pos": 231, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 229
        }, 
        {
            "end_pos": 171, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 169
        }, 
        {
            "end_pos": 1611, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 1609
        }, 
        {
            "end_pos": 1303, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 1301
        }, 
        {
            "end_pos": 1018, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 1016
        }, 
        {
            "end_pos": 1057, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 1055
        }, 
        {
            "end_pos": 1519, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 1517
        }, 
        {
            "end_pos": 1356, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 1354
        }, 
        {
            "end_pos": 1328, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 1326
        }, 
        {
            "end_pos": 248, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 246
        }
    ], 
    "isoforms": [
        {
            "url": "https://www.uniprot.org/uniprot/A4D0S4#C9JMJ0-1", 
            "isoform_ac": "C9JMJ0-1", 
            "locus": {
                "end_pos": 108075741, 
                "start_pos": 108123164, 
                "chromosome": "7", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000418464", 
                        "id": "ENST00000418464", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000402353", 
                        "id": "ENSP00000402353", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "tr|C9JMJ0-1|LAMB4_HUMAN Computationally mapped isoform of Laminin subunit beta-4  OS=Homo sapiens OX=9606 GN=LAMB4 PE=2 SV=2 CANONICAL=A4D0S4-1", 
                "length": 772, 
                "sequence": "MQFQLTLFLHLGWLSYSKAQDDCNRGACHPTTGDLLVGRNTQLMASSTCGLSRAQKYCILSYLEGEQKCFICDSRFPYDPYDQPNSHTIENVIVSFEPDREKKWWQSENGLDHVSIRLDLEALFRFSHLILTFKTFRPAAMLVERSTDYGHNWKVFKYFAKDCATSFPNITSGQAQGVGDIVCDSKYSDIEPSTGGEVVLKVLDPSFEIENPYSPYIQDLVTLTNLRINFTKLHTLGDALLGRRQNDSLDKYYYALYEMIVRGSCFCNGHASECRPMQKMRGDVFSPPGMVHGQCVCQHNTDGPNCERCKDFFQDAPWRPAADLQDNACRSCSCNSHSSRCHFDMTTYLASGGLSGGVCEDCQHNTEGQHCDRCRPLFYRDPLKTISDPYACIPCECDPDGTISGGICVSHSDPALGSVAGQCLCKENVEGAKCDQCKPNHYGLSATDPLGCQPCDCNPLGSLPFLTCDVDTGQCLCLSYVTGAHCEECTVGYWGLGNHLHGCSPCDCDIGGAYSNVCSPKNGQCECRPHVTGRSCSEPAPGYFFAPLNFYLYEAEEATTLQGLAPLGSETFGQSPAVHVVLGEPVPGNPVTWTGPGFARVLPGAGLRFAVNNIPFPVDFTIAIHYETQSAADWTVQIVVNPPGGSEHCIPKTLQSKPQSFALPAATRIMLLPTPICLEPDVQYSIDVYFSQPLQGESHAHSHVLVDSAAVQWHNLGSLQPPPPECKQFSCFSFPSSWDYRHPPPHLANFCIFSRDGVSPHWPGWSQTPDLR"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A4D0S4#A4D0S4-1", 
            "isoform_ac": "A4D0S4-1", 
            "locus": {
                "end_pos": 108024042, 
                "start_pos": 108123164, 
                "chromosome": "7", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000388781", 
                        "id": "ENST00000388781", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000373433", 
                        "id": "ENSP00000373433", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "sp|A4D0S4-1|LAMB4_HUMAN Isoform 1 of Laminin subunit beta-4  OS=Homo sapiens OX=9606 GN=LAMB4 PE=2 SV=1 CANONICAL=A4D0S4-1", 
                "length": 1761, 
                "sequence": "MQFQLTLFLHLGWLSYSKAQDDCNRGACHPTTGDLLVGRNTQLMASSTCGLSRAQKYCILSYLEGEQKCFICDSRFPYDPYDQPNSHTIENVIVSFEPDREKKWWQSENGLDHVSIRLDLEALFRFSHLILTFKTFRPAAMLVERSTDYGHNWKVFKYFAKDCATSFPNITSGQAQGVGDIVCDSKYSDIEPSTGGEVVLKVLDPSFEIENPYSPYIQDLVTLTNLRINFTKLHTLGDALLGRRQNDSLDKYYYALYEMIVRGSCFCNGHASECRPMQKMRGDVFSPPGMVHGQCVCQHNTDGPNCERCKDFFQDAPWRPAADLQDNACRSCSCNSHSSRCHFDMTTYLASGGLSGGVCEDCQHNTEGQHCDRCRPLFYRDPLKTISDPYACIPCECDPDGTISGGICVSHSDPALGSVAGQCLCKENVEGAKCDQCKPNHYGLSATDPLGCQPCDCNPLGSLPFLTCDVDTGQCLCLSYVTGAHCEECTVGYWGLGNHLHGCSPCDCDIGGAYSNVCSPKNGQCECRPHVTGRSCSEPAPGYFFAPLNFYLYEAEEATTLQGLAPLGSETFGQSPAVHVVLGEPVPGNPVTWTGPGFARVLPGAGLRFAVNNIPFPVDFTIAIHYETQSAADWTVQIVVNPPGGSEHCIPKTLQSKPQSFALPAATRIMLLPTPICLEPDVQYSIDVYFSQPLQGESHAHSHVLVDSLGLIPQINSLENFCSKQDLDEYQLHNCVEIASAMGPQVLPGACERLIISMSAKLHDGAVACKCHPQGSVGSSCSRLGGQCQCKPLVVGRCCDRCSTGSYDLGHHGCHPCHCHPQGSKDTVCDQVTGQCPCHGEVSGRRCDRCLAGYFGFPSCHPCPCNRFAELCDPETGSCFNCGGFTTGRNCERCIDGYYGNPSSGQPCRPCLCPDDPSSNQYFAHSCYQNLWSSDVICNCLQGYTGTQCGECSTGFYGNPRISGAPCQPCACNNNIDVTDPESCSRVTGECLRCLHNTQGANCQLCKPGHYGSALNQTCRRCSCHASGVSPMECPPGGGACLCDPVTGACPCLPNVTGLACDRCADGYWNLVPGRGCQSCDCDPRTSQSSHCDQLTGQCPCKLGYGGKRCSECQENYYGDPPGRCIPCDCNRAGTQKPICDPDTGMCRCREGVSGQRCDRCARGHSQEFPTCLQCHLCFDQWDHTISSLSKAVQGLMRLAANMEDKRETLPVCEADFKDLRGNVSEIERILKHPVFPSGKFLKVKDYHDSVRRQIMQLNEQLKAVYEFQDLKDTIERAKNEADLLLEDLQEEIDLQSSVLNASIADSSENIKKYYHISSSAEKKINETSSTINTSANTRNDLLTILDTLTSKGNLSLERLKQIKIPDIQILNEKVCGDPGNVPCVPLPCGGALCTGRKGHRKCRGPGCHGSLTLSTNALQKAQEAKSIIRNLDKQVRGLKNQIESISEQAEVSKNNALQLREKLGNIRNQSDSEEENINLFIKKVKNFLLEENVPPEDIEKVANGVLDIHLPIPSQNLTDELVKIQKHMQLCEDYRTDENRLNEEADGAQKLLVKAKAAEKAANILLNLDKTLNQLQQAQITQGRANSTITQLTANITKIKKNVLQAENQTREMKSELELAKQRSGLEDGLSLLQTKLQRHQDHAVNAKVQAESAQHQAGSLEKEFVELKKQYAILQRKTSTTGLTKETLGKVKQLKDAAEKLAGDTEAKIRRITDLERKIQDLNLSRQAKADQLRILEDQVVAIKNEIVEQEKKYARCYS"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A4D0S4#A4D0S4-2", 
            "isoform_ac": "A4D0S4-2", 
            "locus": {}, 
            "sequence": {
                "header": "sp|A4D0S4-2|LAMB4_HUMAN Isoform 2 of Laminin subunit beta-4  OS=Homo sapiens OX=9606 GN=LAMB4 PE=2 SV=1 CANONICAL=A4D0S4-1", 
                "length": 772, 
                "sequence": "MQFQLTLFLHLGWLSYSKAQDDCNRGACHPTTGDLLVGRNTQLMASSTCGLSRAQKYCILSYLEGEQKCFICDSRFPYDPYDQPNSHTIENVIVSFEPDREKKWWQSENGLDHVSIRLDLEALFRFSHLILTFKTFRPAAMLVERSTDYGHNWKVFKYFAKDCATSFPNITSGQAQGVGDIVCDSKYSDIEPSTGGEVVLKVLDPSFEIENPYSPYIQDLVTLTNLRINFTKLHTLGDALLGRRQNDSLDKYYYALYEMIVRGSCFCNGHASECRPMQKMRGDVFSPPGMVHGQCVCQHNTDGPNCERCKDFFQDAPWRPAADLQDNACRSCSCNSHSSRCHFDMTTYLASGGLSGGVCEDCQHNTEGQHCDRCRPLFYRDPLKTISDPYACIPCECDPDGTISGGICVSHSDPALGSVAGQCLCKENVEGAKCDQCKPNHYGLSATDPLGCQPCDCNPLGSLPFLTCDVDTGQCLCLSYVTGAHCEECTVGYWGLGNHLHGCSPCDCDIGGAYSNVCSPKNGQCECRPHVTGRSCSEPAPGYFFAPLNFYLYEAEEATTLQGLAPLGSETFGQSPAVHVVLGEPVPGNPVTWTGPGFARVLPGAGLRFAVNNIPFPVDFTIAIHYETQSAADWTVQIVVNPPGGSEHCIPKTLQSKPQSFALPAATRIMLLPTPICLEPDVQYSIDVYFSQPLQGESHAHSHVLVDSAAVQWHNLGSLQPPPPECKQFSCFSFPSSWDYRHPPPHLASFCIFSRDGVSPHWPGWSRTPDLR"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A4D0S4#A4D0S4-3", 
            "isoform_ac": "A4D0S4-3", 
            "locus": {}, 
            "sequence": {
                "header": "sp|A4D0S4-3|LAMB4_HUMAN Isoform 3 of Laminin subunit beta-4  OS=Homo sapiens OX=9606 GN=LAMB4 PE=2 SV=1 CANONICAL=A4D0S4-1", 
                "length": 1723, 
                "sequence": "MQFQLTLFLHLGWLSYSKAQDDCNRGACHPTTGDLLVGRNTQLMASSTCGLSRAQKYCILSYLEGEQKCFICDSRFPYDPYDQPNSHTIENVIVSFEPDREKKWWQSENGLDHVSIRLDLEALFRFSHLILTFKTFRPAAMLVERSTDYGHNWKVFKYFAKDCATSFPNITSGQAQGVGDIVCDSKYSDIEPSTGGEVVLKVLDPSFEIENPYSPYIQDLVTLTNLRINFTKLHTLGDALLGRRQNDSLDKYYYALYEMIVRGSCFCNGHASECRPMQKMRGDVFSPPGMVHGQCVCQHNTDGPNCERCKDFFQDAPWRPAADLQDNACRSCSCNSHSSRCHFDMTTYLASGGLSGGVCEDCQHNTEGQHCDRCRPLFYRDPLKTISDPYACIPCECDPDGTISGGICVSHSDPALGSVAGQCLCKENVEGAKCDQCKPNHYGLSATDPLGCQPCDCNPLGSLPFLTCDVDTGQCLCLSYVTGAHCEECTVGYWGLGNHLHGCSPCDCDIGGAYSNVCSPKNGQCECRPHVTGRSCSEPAPGYFFAPLNFYLYEAEEATTLQGLAPLGSETFGQSPAVHVVLGEPVPGNPVTWTGPGFARVLPGAGLRFAVNNIPFPVDFTIAIHYETQSAADWTVQIVVNPPGGSEHCIPKTLQSKPQSFALPAATRIMLLPTPICLEPDVQYSIDVYFSQPLQGESHAHSHVLVDSLGLIPQINSLENFCSKQDLDEYQLHNCVEIASAMGPQVLPGACERLIISMSAKLHDGAVACKCHPQGSVGSSCSRLGGQCQCKPLVVGRCCDRCSTGSYDLGHHGCHPCHCHPQGSKDTVCDQVTGQCPCHGEVSGRRCDRCLAGYFGFPSCHPCPCNRFAELCDPETGSCFNCGGFTTGRNCERCIDGYYGNPSSGQPCRPCLCPDDPSSNQYFAHSCYQNLWSSDVICNCLQGYTGTQCGECSTGFYGNPRISGAPCQPCACNNNIDVTDPESCSRVTGECLRCLHNTQGANCQLCKPGHYGSALNQTCRRCSCHASGVSPMECPPGGGACLCDPVTGACPCLPNVTGLACDRCADGYWNLVPGRGCQSCDCDPRTSQSSHCDQLTGQCPCKLGYGGKRCSECQENYYGDPPGRCIPCDCNRAGTQKPICDPDTGMCRCREGVSGQRCDRCARGHSQEFPTCLQCHLCFDQWDHTISSLSKAVQGLMRLAANMEDKRETLPVCEADFKDLRGNVSEIERILKHPVFPSGKFLKVKDYHDSVRRQIMQLNEQLKAVYEFQDLKDTIERAKNEADLLLEDLQEEIDLQSSVLNASIADSSENIKKYYHISSSAEKKINETSSTINTSANTRNDLLTILDTLTSKGNLSLERLKQIKIPDIQILNEKVCGDPGNVPCVPLPCGGALCTGRKGHRKCRGPGCHGSLTLSTNALQKAQEAKSIIRNLDKQVRGLKNQIESISEQAEVSKNNALQLREKLGNIRNQSDSEEENINLFIKKVKNFLLEENVPPEDIEKVANGVLDIHLPIPSQNLTDELVKIQKHMQLCEDYRTDENRLNEEADGAQKLLVKAKAAEKAANILLNLDKTLNQLQQAQITQGRANSTITQLTANITKIKKNVLQAENQTREMKSELELAKQRSGLEDGLSLLQTKLQRHQDHAVNAKVQAESAQHQAGSLEKEFVELKKQYAILQRKTSTTGLTKETLGKVKQLKDAAEKLAGDTEAKIRRITGCFQNSAR"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A4D0S4#A0A0C4DG90-1", 
            "isoform_ac": "A0A0C4DG90-1", 
            "locus": {
                "end_pos": 108026893, 
                "start_pos": 108063899, 
                "chromosome": "7", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000422975", 
                        "id": "ENST00000422975", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000416562", 
                        "id": "ENSP00000416562", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "tr|A0A0C4DG90-1|LAMB4_HUMAN Computationally mapped isoform of Laminin subunit beta-4  OS=Homo sapiens OX=9606 GN=LAMB4 PE=2 SV=1 CANONICAL=A4D0S4-1", 
                "length": 749, 
                "sequence": "NIDVTDPESCSRVTGECLRCLHNTQGANCQLCKPGHYGSALNQTCRRCSCHASGVSPMECPPGGGACLCDPVTGACPCLPNVTGLACDRCADGYWNLVPGRGCQSCDCDPRTSQSSHCDQLTGQCPCKLGYGGKRCSECQENYYGDPPGRCIPCDCNRAGTQKPICDPDTGMCRCREGVSGQRCDRCARGHSQEFPTCLQCHLCFDQWDHTISSLSKAVQGLMRLAANMEDKRETLPVCEADFKDLRGNVSEIERILKHPVFPSGKFLKVKDYHDSVRRQIMQLNEQLKAVYEFQDLKDTIERAKNEADLLLEDLQEEIDLQSSVLNASIADSSENIKKYYHISSSAEKKINETSSTINTSANTRNDLLTILDTLTSKGNLSLERLKQIKIPDIQILNEKVCGDPGNVPCVPLPCGGALCTGRKGHRKCRGPGCHGSLTLSTNALQKAQEAKSIIRNLDKQVRGLKNQIESISEQAEVSKNNALQLREKLGNIRNQSDSEEENINLFIKKVKNFLLEENVPPEDIEKVANGVLDIHLPIPSQNLTDELVKIQKHMQLCEDYRTDENRLNEEADGAQKLLVKAKAAEKAANILLNLDKTLNQLQQAQITQGRANSTITQLTANITKIKKNVLQAENQTREMKSELELAKQRSGLEDGLSLLQTKLQRHQDHAVNAKVQAESAQHQAGSLEKEFVELKKQYAILQRKTSTTGLTKETLGKVKQLKDAAEKLAGDTEAKIRRITGCFQNSAR"
            }
        }
    ], 
    "pathway": [
        {
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:22798", 
            "resource": "KEGG Pathway", 
            "id": "hsa:22798", 
            "name": ""
        }
    ], 
    "function": [
        {
            "url": "https://www.uniprot.org/uniprot/A4D0S4#function", 
            "annotation": "Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A4D0S4#function", 
                    "id": "A4D0S4", 
                    "database": "UniProtKB"
                }
            ]
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", 
            "annotation": "We identified a rare single nucleotide variant in the laminin beta 4 gene (LAMB4) that segregated with familial diverticulitis in a dominant pattern and causes a damaging missense substitution (D435N). Targeted sequencing of LAMB4 in 148 non-familial and unrelated sporadic diverticulitis patients identified two additional rare variants in the gene.", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", 
                    "id": "NP_001304975.1", 
                    "database": "RefSeq"
                }
            ]
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", 
            "annotation": "Loss of LAMB4 expression was identified in 17-32% of the GC and CRC. Of note, the loss expression was more common in the cancers with LAMB4 mutation or those with MSI-H.", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", 
                    "id": "NP_001304975.1", 
                    "database": "RefSeq"
                }
            ]
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", 
            "annotation": "Observational study of gene-disease association. (HuGE Navigator)", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", 
                    "id": "NP_001304975.1", 
                    "database": "RefSeq"
                }
            ]
        }
    ], 
    "orthologs": [], 
    "interactions": [], 
    "synthesized_glycans": [], 
    "snv": [
        {
            "sequence_org": "S", 
            "alt_nt": "T", 
            "chr_id": "7", 
            "ref_nt": "C", 
            "chr_pos": "108043811", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781436280", 
                    "id": "rs781436280", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781436280", 
                    "id": "rs781436280", 
                    "database": "ExAC"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs781436280", 
                    "id": "rs781436280", 
                    "database": "gnomAD"
                }
            ], 
            "sequence_mut": "N", 
            "start_pos": 1471, 
            "keywords": [
                "ebi", 
                "germline"
            ], 
            "end_pos": 1471, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SDS->NDS); n-glyco-sequon-loss (NQS->NQN)."
        }, 
        {
            "sequence_org": "S", 
            "start_pos": 1297, 
            "alt_nt": "T", 
            "chr_id": "7", 
            "ref_nt": "G", 
            "chr_pos": "107692568", 
            "disease": [
                {
                    "synonyms": [], 
                    "recommended_name": {
                        "id": "1324", 
                        "url": "http://disease-ontology.org/term/DOID:1324", 
                        "resource": "Disease Ontology", 
                        "name": "lung cancer", 
                        "description": "A respiratory system cancer that is located_in the lung."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", 
                    "id": "A4D0S4", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "1.7", 
            "sequence_mut": "Y", 
            "subjects_tested": "1514", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (1.7%); patient count (25/1514).", 
            "end_pos": 1297, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "25"
        }, 
        {
            "sequence_org": "G", 
            "start_pos": 1353, 
            "alt_nt": "T", 
            "chr_id": "7", 
            "ref_nt": "C", 
            "chr_pos": "107689836", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "Thyroid gland neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumour of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "thyroid neoplasm", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "1781", 
                        "url": "http://disease-ontology.org/term/DOID:1781", 
                        "resource": "Disease Ontology", 
                        "name": "thyroid gland cancer", 
                        "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", 
                    "id": "A4D0S4", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "2.0", 
            "sequence_mut": "R", 
            "subjects_tested": "50", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", 
            "end_pos": 1353, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "S", 
            "alt_nt": "T", 
            "chr_id": "7", 
            "ref_nt": "G", 
            "chr_pos": "108052104", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745923849", 
                    "id": "rs745923849", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745923849", 
                    "id": "rs745923849", 
                    "database": "ExAC"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs745923849", 
                    "id": "rs745923849", 
                    "database": "gnomAD"
                }
            ], 
            "sequence_mut": "R", 
            "start_pos": 1303, 
            "keywords": [
                "ebi", 
                "germline"
            ], 
            "end_pos": 1303, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NAR)."
        }, 
        {
            "sequence_org": "S", 
            "alt_nt": "C", 
            "chr_id": "7", 
            "ref_nt": "A", 
            "chr_pos": "108049382", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1253631378", 
                    "id": "rs1253631378", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1253631378#frequency_tab", 
                    "id": "rs1253631378", 
                    "database": "TOPMed"
                }
            ], 
            "sequence_mut": "A", 
            "start_pos": 1356, 
            "keywords": [
                "ebi", 
                "germline"
            ], 
            "end_pos": 1356, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLA)."
        }, 
        {
            "sequence_org": "N", 
            "alt_nt": "A", 
            "chr_id": "7", 
            "ref_nt": "T", 
            "chr_pos": "108055719", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773869669", 
                    "id": "rs773869669", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773869669", 
                    "id": "rs773869669", 
                    "database": "ExAC"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs773869669", 
                    "id": "rs773869669", 
                    "database": "gnomAD"
                }
            ], 
            "sequence_mut": "I", 
            "start_pos": 1223, 
            "keywords": [
                "ebi", 
                "germline"
            ], 
            "end_pos": 1223, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->IVS)."
        }, 
        {
            "sequence_org": "N", 
            "start_pos": 1223, 
            "alt_nt": "C", 
            "chr_id": "7", 
            "ref_nt": "T", 
            "chr_pos": "107696164", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "CA - cancer of uterus", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "Tumour of uterus", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of uterus", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "malignant uterine tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of uterus", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "uterine tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "uterus neoplasm", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "363", 
                        "url": "http://disease-ontology.org/term/DOID:363", 
                        "resource": "Disease Ontology", 
                        "name": "uterine cancer", 
                        "description": "A female reproductive organ cancer that is located_in the uterus."
                    }
                }, 
                {
                    "synonyms": [
                        {
                            "id": "1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "BT - Brain tumour", 
                            "description": ""
                        }, 
                        {
                            "id": "1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "adult brain tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "adult malignant brain neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "brain neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "brain neoplasm, adult", 
                            "description": ""
                        }, 
                        {
                            "id": "1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "malignant brain tumour", 
                            "description": ""
                        }, 
                        {
                            "id": "1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "malignant primary brain neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "malignant primary brain tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of Brain", 
                            "description": ""
                        }, 
                        {
                            "id": "1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of adult brain", 
                            "description": ""
                        }, 
                        {
                            "id": "1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of brain", 
                            "description": ""
                        }, 
                        {
                            "id": "1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "primary brain neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "primary brain tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "primary malignant neoplasm of brain", 
                            "description": ""
                        }, 
                        {
                            "id": "1319", 
                            "url": "http://disease-ontology.org/term/DOID:1319", 
                            "resource": "Disease Ontology", 
                            "name": "tumor of the Brain", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "1319", 
                        "url": "http://disease-ontology.org/term/DOID:1319", 
                        "resource": "Disease Ontology", 
                        "name": "brain cancer", 
                        "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", 
                    "id": "A4D0S4", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.4", 
            "sequence_mut": "S", 
            "subjects_tested": "558", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NVS->SVS).", 
            "end_pos": 1223, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "2"
        }, 
        {
            "sequence_org": "L", 
            "alt_nt": "G", 
            "chr_id": "7", 
            "ref_nt": "A", 
            "chr_pos": "108043757", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs533237873", 
                    "id": "rs533237873", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs533237873", 
                    "id": "rs533237873", 
                    "database": "1000Genomes"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs533237873", 
                    "id": "rs533237873", 
                    "database": "ExAC"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs533237873#frequency_tab", 
                    "id": "rs533237873", 
                    "database": "TOPMed"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs533237873", 
                    "id": "rs533237873", 
                    "database": "gnomAD"
                }
            ], 
            "sequence_mut": "S", 
            "start_pos": 1489, 
            "keywords": [
                "ebi", 
                "germline"
            ], 
            "end_pos": 1489, 
            "minor_allelic_frequency": "2.0E-4", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFL->NFS)."
        }, 
        {
            "sequence_org": "T", 
            "start_pos": 1018, 
            "alt_nt": "C", 
            "chr_id": "7", 
            "ref_nt": "T", 
            "chr_pos": "107704215", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "10534", 
                            "url": "http://disease-ontology.org/term/DOID:10534", 
                            "resource": "Disease Ontology", 
                            "name": "Ca body - stomach", 
                            "description": ""
                        }, 
                        {
                            "id": "10534", 
                            "url": "http://disease-ontology.org/term/DOID:10534", 
                            "resource": "Disease Ontology", 
                            "name": "Ca lesser curvature - stomach", 
                            "description": ""
                        }, 
                        {
                            "id": "10534", 
                            "url": "http://disease-ontology.org/term/DOID:10534", 
                            "resource": "Disease Ontology", 
                            "name": "ca greater curvature of stomach", 
                            "description": ""
                        }, 
                        {
                            "id": "10534", 
                            "url": "http://disease-ontology.org/term/DOID:10534", 
                            "resource": "Disease Ontology", 
                            "name": "gastric cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "10534", 
                            "url": "http://disease-ontology.org/term/DOID:10534", 
                            "resource": "Disease Ontology", 
                            "name": "gastric neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "10534", 
                            "url": "http://disease-ontology.org/term/DOID:10534", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of body of stomach", 
                            "description": ""
                        }, 
                        {
                            "id": "10534", 
                            "url": "http://disease-ontology.org/term/DOID:10534", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of lesser curve of stomach", 
                            "description": ""
                        }, 
                        {
                            "id": "10534", 
                            "url": "http://disease-ontology.org/term/DOID:10534", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of body of stomach", 
                            "description": ""
                        }, 
                        {
                            "id": "10534", 
                            "url": "http://disease-ontology.org/term/DOID:10534", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of greater curve of stomach", 
                            "description": ""
                        }, 
                        {
                            "id": "10534", 
                            "url": "http://disease-ontology.org/term/DOID:10534", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of lesser curve of stomach", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "10534", 
                        "url": "http://disease-ontology.org/term/DOID:10534", 
                        "resource": "Disease Ontology", 
                        "name": "stomach cancer", 
                        "description": "A gastrointestinal system cancer that is located_in the stomach."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", 
                    "id": "A4D0S4", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.1", 
            "sequence_mut": "A", 
            "subjects_tested": "1044", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NQT->NQA).", 
            "end_pos": 1018, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "T", 
            "alt_nt": "A", 
            "chr_id": "7", 
            "ref_nt": "G", 
            "chr_pos": "108063769", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754812469", 
                    "id": "rs754812469", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754812469", 
                    "id": "rs754812469", 
                    "database": "ExAC"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs754812469", 
                    "id": "rs754812469", 
                    "database": "gnomAD"
                }
            ], 
            "sequence_mut": "I", 
            "start_pos": 1018, 
            "keywords": [
                "ebi", 
                "germline"
            ], 
            "end_pos": 1018, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->NQI)."
        }, 
        {
            "sequence_org": "G", 
            "start_pos": 645, 
            "alt_nt": "G", 
            "chr_id": "7", 
            "ref_nt": "C", 
            "chr_pos": "107718715", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "2394", 
                            "url": "http://disease-ontology.org/term/DOID:2394", 
                            "resource": "Disease Ontology", 
                            "name": "malignant Ovarian tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "2394", 
                            "url": "http://disease-ontology.org/term/DOID:2394", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumour of ovary", 
                            "description": ""
                        }, 
                        {
                            "id": "2394", 
                            "url": "http://disease-ontology.org/term/DOID:2394", 
                            "resource": "Disease Ontology", 
                            "name": "ovarian neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "2394", 
                            "url": "http://disease-ontology.org/term/DOID:2394", 
                            "resource": "Disease Ontology", 
                            "name": "ovary neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "2394", 
                            "url": "http://disease-ontology.org/term/DOID:2394", 
                            "resource": "Disease Ontology", 
                            "name": "primary ovarian cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "2394", 
                            "url": "http://disease-ontology.org/term/DOID:2394", 
                            "resource": "Disease Ontology", 
                            "name": "tumor of the Ovary", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "2394", 
                        "url": "http://disease-ontology.org/term/DOID:2394", 
                        "resource": "Disease Ontology", 
                        "name": "ovarian cancer", 
                        "description": "A female reproductive organ cancer that is located_in the ovary."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", 
                    "id": "A4D0S4", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "1.1", 
            "sequence_mut": "A", 
            "subjects_tested": "93", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", 
            "end_pos": 645, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "R", 
            "start_pos": 262, 
            "alt_nt": "A", 
            "chr_id": "7", 
            "ref_nt": "G", 
            "chr_pos": "107746348", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "CA - cancer of uterus", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "Tumour of uterus", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of uterus", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "malignant uterine tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of uterus", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "uterine tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "uterus neoplasm", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "363", 
                        "url": "http://disease-ontology.org/term/DOID:363", 
                        "resource": "Disease Ontology", 
                        "name": "uterine cancer", 
                        "description": "A female reproductive organ cancer that is located_in the uterus."
                    }
                }, 
                {
                    "synonyms": [
                        {
                            "id": "263", 
                            "url": "http://disease-ontology.org/term/DOID:263", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of kidney except pelvis", 
                            "description": ""
                        }, 
                        {
                            "id": "263", 
                            "url": "http://disease-ontology.org/term/DOID:263", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumour of kidney", 
                            "description": ""
                        }, 
                        {
                            "id": "263", 
                            "url": "http://disease-ontology.org/term/DOID:263", 
                            "resource": "Disease Ontology", 
                            "name": "renal cancer", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "263", 
                        "url": "http://disease-ontology.org/term/DOID:263", 
                        "resource": "Disease Ontology", 
                        "name": "kidney cancer", 
                        "description": "A urinary system cancer that is located_in the kidney."
                    }
                }, 
                {
                    "synonyms": [], 
                    "recommended_name": {
                        "id": "9256", 
                        "url": "http://disease-ontology.org/term/DOID:9256", 
                        "resource": "Disease Ontology", 
                        "name": "colorectal cancer", 
                        "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", 
                    "id": "A4D0S4", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.2", 
            "sequence_mut": "W", 
            "subjects_tested": "558", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs766405251.", 
            "end_pos": 262, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "R", 
            "start_pos": 281, 
            "alt_nt": "A", 
            "chr_id": "7", 
            "ref_nt": "G", 
            "chr_pos": "107746291", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "CA - cancer of uterus", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "Tumour of uterus", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of uterus", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "malignant uterine tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of uterus", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "uterine tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "uterus neoplasm", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "363", 
                        "url": "http://disease-ontology.org/term/DOID:363", 
                        "resource": "Disease Ontology", 
                        "name": "uterine cancer", 
                        "description": "A female reproductive organ cancer that is located_in the uterus."
                    }
                }, 
                {
                    "synonyms": [
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "Ca lower third oesophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "Ca middle third oesophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "esophagus cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of distal third of esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of lower third of oesophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of middle third of oesophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of proximal third of esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of upper third esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of Distal Third of esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of Proximal Third of esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of abdominal esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of the middle Third of the esophagus", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "5041", 
                        "url": "http://disease-ontology.org/term/DOID:5041", 
                        "resource": "Disease Ontology", 
                        "name": "esophageal cancer", 
                        "description": "A gastrointestinal system cancer that is located_in the esophagus."
                    }
                }, 
                {
                    "synonyms": [], 
                    "recommended_name": {
                        "id": "9256", 
                        "url": "http://disease-ontology.org/term/DOID:9256", 
                        "resource": "Disease Ontology", 
                        "name": "colorectal cancer", 
                        "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", 
                    "id": "A4D0S4", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.2", 
            "sequence_mut": "W", 
            "subjects_tested": "558", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs751482652.", 
            "end_pos": 281, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "N", 
            "alt_nt": "T", 
            "chr_id": "7", 
            "ref_nt": "G", 
            "chr_pos": "108043816", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368034090", 
                    "id": "rs368034090", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368034090", 
                    "id": "rs368034090", 
                    "database": "ExAC"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs368034090#frequency_tab", 
                    "id": "rs368034090", 
                    "database": "TOPMed"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs368034090", 
                    "id": "rs368034090", 
                    "database": "gnomAD"
                }
            ], 
            "sequence_mut": "K", 
            "start_pos": 1469, 
            "keywords": [
                "ebi", 
                "germline"
            ], 
            "end_pos": 1469, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->KQS)."
        }, 
        {
            "sequence_org": "T", 
            "start_pos": 231, 
            "alt_nt": "T", 
            "chr_id": "7", 
            "ref_nt": "G", 
            "chr_pos": "107746440", 
            "disease": [
                {
                    "synonyms": [], 
                    "recommended_name": {
                        "id": "1324", 
                        "url": "http://disease-ontology.org/term/DOID:1324", 
                        "resource": "Disease Ontology", 
                        "name": "lung cancer", 
                        "description": "A respiratory system cancer that is located_in the lung."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", 
                    "id": "A4D0S4", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.1", 
            "sequence_mut": "N", 
            "subjects_tested": "1514", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NFT->NFN).", 
            "end_pos": 231, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "S", 
            "start_pos": 214, 
            "alt_nt": "A", 
            "chr_id": "7", 
            "ref_nt": "C", 
            "chr_pos": "107746968", 
            "disease": [
                {
                    "synonyms": [], 
                    "recommended_name": {
                        "id": "9256", 
                        "url": "http://disease-ontology.org/term/DOID:9256", 
                        "resource": "Disease Ontology", 
                        "name": "colorectal cancer", 
                        "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", 
                    "id": "A4D0S4", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "1.1", 
            "sequence_mut": "I", 
            "subjects_tested": "94", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", 
            "end_pos": 214, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "F", 
            "alt_nt": "G", 
            "chr_id": "7", 
            "ref_nt": "A", 
            "chr_pos": "108043781", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762309851", 
                    "id": "rs762309851", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762309851", 
                    "id": "rs762309851", 
                    "database": "ExAC"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs762309851", 
                    "id": "rs762309851", 
                    "database": "gnomAD"
                }
            ], 
            "sequence_mut": "S", 
            "start_pos": 1481, 
            "keywords": [
                "ebi", 
                "germline"
            ], 
            "end_pos": 1481, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLF->NLS)."
        }, 
        {
            "sequence_org": "S", 
            "start_pos": 1681, 
            "alt_nt": "T", 
            "chr_id": "7", 
            "ref_nt": "C", 
            "chr_pos": "107669592", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "10534", 
                            "url": "http://disease-ontology.org/term/DOID:10534", 
                            "resource": "Disease Ontology", 
                            "name": "Ca body - stomach", 
                            "description": ""
                        }, 
                        {
                            "id": "10534", 
                            "url": "http://disease-ontology.org/term/DOID:10534", 
                            "resource": "Disease Ontology", 
                            "name": "Ca lesser curvature - stomach", 
                            "description": ""
                        }, 
                        {
                            "id": "10534", 
                            "url": "http://disease-ontology.org/term/DOID:10534", 
                            "resource": "Disease Ontology", 
                            "name": "ca greater curvature of stomach", 
                            "description": ""
                        }, 
                        {
                            "id": "10534", 
                            "url": "http://disease-ontology.org/term/DOID:10534", 
                            "resource": "Disease Ontology", 
                            "name": "gastric cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "10534", 
                            "url": "http://disease-ontology.org/term/DOID:10534", 
                            "resource": "Disease Ontology", 
                            "name": "gastric neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "10534", 
                            "url": "http://disease-ontology.org/term/DOID:10534", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of body of stomach", 
                            "description": ""
                        }, 
                        {
                            "id": "10534", 
                            "url": "http://disease-ontology.org/term/DOID:10534", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of lesser curve of stomach", 
                            "description": ""
                        }, 
                        {
                            "id": "10534", 
                            "url": "http://disease-ontology.org/term/DOID:10534", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of body of stomach", 
                            "description": ""
                        }, 
                        {
                            "id": "10534", 
                            "url": "http://disease-ontology.org/term/DOID:10534", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of greater curve of stomach", 
                            "description": ""
                        }, 
                        {
                            "id": "10534", 
                            "url": "http://disease-ontology.org/term/DOID:10534", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of lesser curve of stomach", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "10534", 
                        "url": "http://disease-ontology.org/term/DOID:10534", 
                        "resource": "Disease Ontology", 
                        "name": "stomach cancer", 
                        "description": "A gastrointestinal system cancer that is located_in the stomach."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", 
                    "id": "A4D0S4", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.1", 
            "sequence_mut": "N", 
            "subjects_tested": "1044", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (STT->NTT).", 
            "end_pos": 1681, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "D", 
            "alt_nt": "T", 
            "chr_id": "7", 
            "ref_nt": "C", 
            "chr_pos": "108098565", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "0110802", 
                            "url": "http://disease-ontology.org/term/DOID:0110802", 
                            "resource": "Disease Ontology", 
                            "name": "CPSQ3", 
                            "description": ""
                        }, 
                        {
                            "id": "0110802", 
                            "url": "http://disease-ontology.org/term/DOID:0110802", 
                            "resource": "Disease Ontology", 
                            "name": "SPG50", 
                            "description": ""
                        }, 
                        {
                            "id": "0110802", 
                            "url": "http://disease-ontology.org/term/DOID:0110802", 
                            "resource": "Disease Ontology", 
                            "name": "autosomal recessive spastic paraplegia 50", 
                            "description": ""
                        }, 
                        {
                            "id": "0110802", 
                            "url": "http://disease-ontology.org/term/DOID:0110802", 
                            "resource": "Disease Ontology", 
                            "name": "spastic quadriplegic cerebral palsy 3", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "0110802", 
                        "url": "http://disease-ontology.org/term/DOID:0110802", 
                        "resource": "Disease Ontology", 
                        "name": "hereditary spastic paraplegia 50", 
                        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1."
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                }
            ], 
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            "chr_pos": "107696117", 
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                {
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                            "resource": "Disease Ontology", 
                            "name": "Ca lower third oesophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "Ca middle third oesophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "esophagus cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
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                            "description": ""
                        }, 
                        {
                            "id": "5041", 
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                            "resource": "Disease Ontology", 
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                            "description": ""
                        }, 
                        {
                            "id": "5041", 
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                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of middle third of oesophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
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                            "resource": "Disease Ontology", 
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                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of upper third esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of Distal Third of esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of Proximal Third of esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of abdominal esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of the middle Third of the esophagus", 
                            "description": ""
                        }
                    ], 
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                        "resource": "Disease Ontology", 
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                }
            ], 
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            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%).", 
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                            "description": ""
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                        {
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                            "resource": "Disease Ontology", 
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                            "description": ""
                        }, 
                        {
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                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
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                            "description": ""
                        }, 
                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
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                            "description": ""
                        }
                    ], 
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                        "url": "http://disease-ontology.org/term/DOID:1781", 
                        "resource": "Disease Ontology", 
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                }
            ], 
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            ], 
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            "keywords": [
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            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", 
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            "minor_allelic_frequency": "", 
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        }, 
        {
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                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748495150", 
                    "id": "rs748495150", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748495150", 
                    "id": "rs748495150", 
                    "database": "ExAC"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs748495150", 
                    "id": "rs748495150", 
                    "database": "gnomAD"
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            ], 
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            "keywords": [
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                "germline"
            ], 
            "end_pos": 1328, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->NEP)."
        }, 
        {
            "sequence_org": "P", 
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            "alt_nt": "A", 
            "chr_id": "7", 
            "ref_nt": "G", 
            "chr_pos": "107688532", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "CA - cancer of uterus", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "Tumour of uterus", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of uterus", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "malignant uterine tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of uterus", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "uterine tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "363", 
                            "url": "http://disease-ontology.org/term/DOID:363", 
                            "resource": "Disease Ontology", 
                            "name": "uterus neoplasm", 
                            "description": ""
                        }
                    ], 
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                        "url": "http://disease-ontology.org/term/DOID:363", 
                        "resource": "Disease Ontology", 
                        "name": "uterine cancer", 
                        "description": "A female reproductive organ cancer that is located_in the uterus."
                    }
                }
            ], 
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                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", 
                    "id": "A4D0S4", 
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                }
            ], 
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            "sequence_mut": "S", 
            "subjects_tested": "558", 
            "keywords": [
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                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NVP->NVS).", 
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            "minor_allelic_frequency": "", 
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        }, 
        {
            "sequence_org": "L", 
            "start_pos": 123, 
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            "chr_id": "7", 
            "ref_nt": "A", 
            "chr_pos": "107749650", 
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                        "url": "http://disease-ontology.org/term/DOID:1324", 
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                }
            ], 
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            "ref_nt": "T", 
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                {
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                {
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                    "id": "rs773372687", 
                    "database": "gnomAD"
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                "ebi", 
                "germline"
            ], 
            "end_pos": 1609, 
            "minor_allelic_frequency": "", 
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        {
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            "chr_pos": "108037442", 
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                    "database": "dbSNP"
                }, 
                {
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                }
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        {
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                    "database": "dbSNP"
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                {
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                {
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            ], 
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            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->KST)."
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        {
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                        }, 
                        {
                            "id": "1781", 
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                        }, 
                        {
                            "id": "1781", 
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                        {
                            "id": "1781", 
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                            "description": ""
                        }, 
                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
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            ], 
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                            "description": ""
                        }, 
                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
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                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
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                            "description": ""
                        }, 
                        {
                            "id": "1781", 
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                            "description": ""
                        }, 
                        {
                            "id": "1781", 
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                }
            ], 
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            ], 
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            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", 
            "end_pos": 359, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
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            "alt_nt": "G", 
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            "ref_nt": "T", 
            "chr_pos": "108030972", 
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                    "id": "rs1378392781", 
                    "database": "dbSNP"
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                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1378392781", 
                    "id": "rs1378392781", 
                    "database": "gnomAD"
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            ], 
            "sequence_mut": "T", 
            "start_pos": 1609, 
            "keywords": [
                "ebi", 
                "germline"
            ], 
            "end_pos": 1609, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->TQT)."
        }, 
        {
            "sequence_org": "I", 
            "alt_nt": "G", 
            "chr_id": "7", 
            "ref_nt": "A", 
            "chr_pos": "108024079", 
            "evidence": [
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                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376112908", 
                    "id": "rs376112908", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376112908", 
                    "id": "rs376112908", 
                    "database": "ExAC"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs376112908#frequency_tab", 
                    "id": "rs376112908", 
                    "database": "TOPMed"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs376112908", 
                    "id": "rs376112908", 
                    "database": "gnomAD"
                }
            ], 
            "sequence_mut": "T", 
            "start_pos": 1749, 
            "keywords": [
                "ebi", 
                "germline"
            ], 
            "end_pos": 1749, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEI->NET)."
        }, 
        {
            "sequence_org": "N", 
            "alt_nt": "C", 
            "chr_id": "7", 
            "ref_nt": "T", 
            "chr_pos": "108063776", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747857576", 
                    "id": "rs747857576", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747857576", 
                    "id": "rs747857576", 
                    "database": "ExAC"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs747857576", 
                    "id": "rs747857576", 
                    "database": "gnomAD"
                }
            ], 
            "sequence_mut": "D", 
            "start_pos": 1016, 
            "keywords": [
                "ebi", 
                "germline"
            ], 
            "end_pos": 1016, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->DQT)."
        }, 
        {
            "sequence_org": "N", 
            "alt_nt": "C", 
            "chr_id": "7", 
            "ref_nt": "T", 
            "chr_pos": "108063775", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781061233", 
                    "id": "rs781061233", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781061233", 
                    "id": "rs781061233", 
                    "database": "ExAC"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs781061233", 
                    "id": "rs781061233", 
                    "database": "gnomAD"
                }
            ], 
            "sequence_mut": "S", 
            "start_pos": 1016, 
            "keywords": [
                "ebi", 
                "germline"
            ], 
            "end_pos": 1016, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->SQT)."
        }, 
        {
            "sequence_org": "T", 
            "alt_nt": "C", 
            "chr_id": "7", 
            "ref_nt": "T", 
            "chr_pos": "108034261", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1359773954", 
                    "id": "rs1359773954", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1359773954", 
                    "id": "rs1359773954", 
                    "database": "gnomAD"
                }
            ], 
            "sequence_mut": "A", 
            "start_pos": 1589, 
            "keywords": [
                "ebi", 
                "germline"
            ], 
            "end_pos": 1589, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSA)."
        }, 
        {
            "sequence_org": "N", 
            "alt_nt": "C", 
            "chr_id": "7", 
            "ref_nt": "T", 
            "chr_pos": "108106001", 
            "disease": [
                {
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                            "url": "http://disease-ontology.org/term/DOID:0110802", 
                            "resource": "Disease Ontology", 
                            "name": "CPSQ3", 
                            "description": ""
                        }, 
                        {
                            "id": "0110802", 
                            "url": "http://disease-ontology.org/term/DOID:0110802", 
                            "resource": "Disease Ontology", 
                            "name": "SPG50", 
                            "description": ""
                        }, 
                        {
                            "id": "0110802", 
                            "url": "http://disease-ontology.org/term/DOID:0110802", 
                            "resource": "Disease Ontology", 
                            "name": "autosomal recessive spastic paraplegia 50", 
                            "description": ""
                        }, 
                        {
                            "id": "0110802", 
                            "url": "http://disease-ontology.org/term/DOID:0110802", 
                            "resource": "Disease Ontology", 
                            "name": "spastic quadriplegic cerebral palsy 3", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "0110802", 
                        "url": "http://disease-ontology.org/term/DOID:0110802", 
                        "resource": "Disease Ontology", 
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                        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1."
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                }
            ], 
            "evidence": [
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                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138761822", 
                    "id": "rs138761822", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs138761822#frequency_tab", 
                    "id": "rs138761822", 
                    "database": "TOPMed"
                }
            ], 
            "sequence_mut": "S", 
            "start_pos": 229, 
            "keywords": [
                "ebi", 
                "germline", 
                "disease"
            ], 
            "end_pos": 229, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->SFT)."
        }, 
        {
            "sequence_org": "T", 
            "alt_nt": "A", 
            "chr_id": "7", 
            "ref_nt": "G", 
            "chr_pos": "108107710", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "0110802", 
                            "url": "http://disease-ontology.org/term/DOID:0110802", 
                            "resource": "Disease Ontology", 
                            "name": "CPSQ3", 
                            "description": ""
                        }, 
                        {
                            "id": "0110802", 
                            "url": "http://disease-ontology.org/term/DOID:0110802", 
                            "resource": "Disease Ontology", 
                            "name": "SPG50", 
                            "description": ""
                        }, 
                        {
                            "id": "0110802", 
                            "url": "http://disease-ontology.org/term/DOID:0110802", 
                            "resource": "Disease Ontology", 
                            "name": "autosomal recessive spastic paraplegia 50", 
                            "description": ""
                        }, 
                        {
                            "id": "0110802", 
                            "url": "http://disease-ontology.org/term/DOID:0110802", 
                            "resource": "Disease Ontology", 
                            "name": "spastic quadriplegic cerebral palsy 3", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
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                        "url": "http://disease-ontology.org/term/DOID:0110802", 
                        "resource": "Disease Ontology", 
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                        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1."
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                }
            ], 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1392683566", 
                    "id": "rs1392683566", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1392683566#frequency_tab", 
                    "id": "rs1392683566", 
                    "database": "TOPMed"
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            ], 
            "sequence_mut": "I", 
            "start_pos": 171, 
            "keywords": [
                "ebi", 
                "germline", 
                "disease"
            ], 
            "end_pos": 171, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->NII)."
        }, 
        {
            "sequence_org": "T", 
            "start_pos": 628, 
            "alt_nt": "T", 
            "chr_id": "7", 
            "ref_nt": "G", 
            "chr_pos": "107720050", 
            "disease": [
                {
                    "synonyms": [], 
                    "recommended_name": {
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                        "url": "http://disease-ontology.org/term/DOID:1324", 
                        "resource": "Disease Ontology", 
                        "name": "lung cancer", 
                        "description": "A respiratory system cancer that is located_in the lung."
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                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", 
                    "id": "A4D0S4", 
                    "database": "BioMuta"
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            ], 
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            "sequence_mut": "N", 
            "subjects_tested": "1514", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (TQS->NQS).", 
            "end_pos": 628, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "E", 
            "start_pos": 1112, 
            "alt_nt": "A", 
            "chr_id": "7", 
            "ref_nt": "C", 
            "chr_pos": "107698322", 
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                            "id": "1612", 
                            "url": "http://disease-ontology.org/term/DOID:1612", 
                            "resource": "Disease Ontology", 
                            "name": "breast tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "1612", 
                            "url": "http://disease-ontology.org/term/DOID:1612", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of breast", 
                            "description": ""
                        }, 
                        {
                            "id": "1612", 
                            "url": "http://disease-ontology.org/term/DOID:1612", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of the breast", 
                            "description": ""
                        }, 
                        {
                            "id": "1612", 
                            "url": "http://disease-ontology.org/term/DOID:1612", 
                            "resource": "Disease Ontology", 
                            "name": "mammary cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "1612", 
                            "url": "http://disease-ontology.org/term/DOID:1612", 
                            "resource": "Disease Ontology", 
                            "name": "mammary tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "1612", 
                            "url": "http://disease-ontology.org/term/DOID:1612", 
                            "resource": "Disease Ontology", 
                            "name": "primary breast cancer", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "1612", 
                        "url": "http://disease-ontology.org/term/DOID:1612", 
                        "resource": "Disease Ontology", 
                        "name": "breast cancer", 
                        "description": "A thoracic cancer that originates in the mammary gland."
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                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", 
                    "id": "A4D0S4", 
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            ], 
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            "sequence_mut": "*", 
            "subjects_tested": "50", 
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                "somatic", 
                "cancer", 
                "disease"
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            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", 
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            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
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            "ref_nt": "A", 
            "chr_pos": "107674693", 
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                {
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                        {
                            "id": "2531", 
                            "url": "http://disease-ontology.org/term/DOID:2531", 
                            "resource": "Disease Ontology", 
                            "name": "Hematologic malignancy", 
                            "description": ""
                        }, 
                        {
                            "id": "2531", 
                            "url": "http://disease-ontology.org/term/DOID:2531", 
                            "resource": "Disease Ontology", 
                            "name": "Hematologic neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "2531", 
                            "url": "http://disease-ontology.org/term/DOID:2531", 
                            "resource": "Disease Ontology", 
                            "name": "Hematological tumors", 
                            "description": ""
                        }, 
                        {
                            "id": "2531", 
                            "url": "http://disease-ontology.org/term/DOID:2531", 
                            "resource": "Disease Ontology", 
                            "name": "blood cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "2531", 
                            "url": "http://disease-ontology.org/term/DOID:2531", 
                            "resource": "Disease Ontology", 
                            "name": "hematopoietic and lymphoid system tumor", 
                            "description": ""
                        }, 
                        {
                            "id": "2531", 
                            "url": "http://disease-ontology.org/term/DOID:2531", 
                            "resource": "Disease Ontology", 
                            "name": "hematopoietic cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "2531", 
                            "url": "http://disease-ontology.org/term/DOID:2531", 
                            "resource": "Disease Ontology", 
                            "name": "hematopoietic neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "2531", 
                            "url": "http://disease-ontology.org/term/DOID:2531", 
                            "resource": "Disease Ontology", 
                            "name": "hematopoietic tumors", 
                            "description": ""
                        }, 
                        {
                            "id": "2531", 
                            "url": "http://disease-ontology.org/term/DOID:2531", 
                            "resource": "Disease Ontology", 
                            "name": "malignant hematopoietic neoplasm", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "2531", 
                        "url": "http://disease-ontology.org/term/DOID:2531", 
                        "resource": "Disease Ontology", 
                        "name": "hematologic cancer", 
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                }
            ], 
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                {
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                    "database": "BioMuta"
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            ], 
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                "cancer", 
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            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.6%).", 
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            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "N", 
            "alt_nt": "C", 
            "chr_id": "7", 
            "ref_nt": "T", 
            "chr_pos": "108024152", 
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                    "id": "rs1321627402", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1321627402", 
                    "id": "rs1321627402", 
                    "database": "gnomAD"
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            ], 
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            "start_pos": 1725, 
            "keywords": [
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                "germline"
            ], 
            "end_pos": 1725, 
            "minor_allelic_frequency": "", 
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        }, 
        {
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            "ref_nt": "C", 
            "chr_pos": "108079633", 
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                            "id": "0110802", 
                            "url": "http://disease-ontology.org/term/DOID:0110802", 
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                            "name": "CPSQ3", 
                            "description": ""
                        }, 
                        {
                            "id": "0110802", 
                            "url": "http://disease-ontology.org/term/DOID:0110802", 
                            "resource": "Disease Ontology", 
                            "name": "SPG50", 
                            "description": ""
                        }, 
                        {
                            "id": "0110802", 
                            "url": "http://disease-ontology.org/term/DOID:0110802", 
                            "resource": "Disease Ontology", 
                            "name": "autosomal recessive spastic paraplegia 50", 
                            "description": ""
                        }, 
                        {
                            "id": "0110802", 
                            "url": "http://disease-ontology.org/term/DOID:0110802", 
                            "resource": "Disease Ontology", 
                            "name": "spastic quadriplegic cerebral palsy 3", 
                            "description": ""
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                    ], 
                    "recommended_name": {
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                        "url": "http://disease-ontology.org/term/DOID:0110802", 
                        "resource": "Disease Ontology", 
                        "name": "hereditary spastic paraplegia 50", 
                        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1."
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                }
            ], 
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                    "id": "rs1168097472", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1168097472#frequency_tab", 
                    "id": "rs1168097472", 
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                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1168097472", 
                    "id": "rs1168097472", 
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            ], 
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                "germline", 
                "disease"
            ], 
            "end_pos": 619, 
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            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DFT->NFT)."
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        {
            "sequence_org": "Q", 
            "start_pos": 524, 
            "alt_nt": "C", 
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            "ref_nt": "T", 
            "chr_pos": "107732201", 
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                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "Thyroid gland neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumour of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "thyroid neoplasm", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "1781", 
                        "url": "http://disease-ontology.org/term/DOID:1781", 
                        "resource": "Disease Ontology", 
                        "name": "thyroid gland cancer", 
                        "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", 
                    "id": "A4D0S4", 
                    "database": "BioMuta"
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            ], 
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            "sequence_mut": "R", 
            "subjects_tested": "50", 
            "keywords": [
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                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", 
            "end_pos": 524, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "N", 
            "alt_nt": "C", 
            "chr_id": "7", 
            "ref_nt": "T", 
            "chr_pos": "108037517", 
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                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376267669", 
                    "id": "rs376267669", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376267669", 
                    "id": "rs376267669", 
                    "database": "ExAC"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs376267669#frequency_tab", 
                    "id": "rs376267669", 
                    "database": "TOPMed"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs376267669", 
                    "id": "rs376267669", 
                    "database": "gnomAD"
                }
            ], 
            "sequence_mut": "S", 
            "start_pos": 1517, 
            "keywords": [
                "ebi", 
                "germline"
            ], 
            "end_pos": 1517, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->SLT)."
        }, 
        {
            "sequence_org": "P", 
            "alt_nt": "T", 
            "chr_id": "7", 
            "ref_nt": "G", 
            "chr_pos": "108079645", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "0110802", 
                            "url": "http://disease-ontology.org/term/DOID:0110802", 
                            "resource": "Disease Ontology", 
                            "name": "CPSQ3", 
                            "description": ""
                        }, 
                        {
                            "id": "0110802", 
                            "url": "http://disease-ontology.org/term/DOID:0110802", 
                            "resource": "Disease Ontology", 
                            "name": "SPG50", 
                            "description": ""
                        }, 
                        {
                            "id": "0110802", 
                            "url": "http://disease-ontology.org/term/DOID:0110802", 
                            "resource": "Disease Ontology", 
                            "name": "autosomal recessive spastic paraplegia 50", 
                            "description": ""
                        }, 
                        {
                            "id": "0110802", 
                            "url": "http://disease-ontology.org/term/DOID:0110802", 
                            "resource": "Disease Ontology", 
                            "name": "spastic quadriplegic cerebral palsy 3", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "0110802", 
                        "url": "http://disease-ontology.org/term/DOID:0110802", 
                        "resource": "Disease Ontology", 
                        "name": "hereditary spastic paraplegia 50", 
                        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201909531", 
                    "id": "rs201909531", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201909531", 
                    "id": "rs201909531", 
                    "database": "1000Genomes"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201909531", 
                    "id": "rs201909531", 
                    "database": "ExAC"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs201909531#frequency_tab", 
                    "id": "rs201909531", 
                    "database": "TOPMed"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs201909531", 
                    "id": "rs201909531", 
                    "database": "gnomAD"
                }
            ], 
            "sequence_mut": "T", 
            "start_pos": 615, 
            "keywords": [
                "ebi", 
                "germline", 
                "disease"
            ], 
            "end_pos": 615, 
            "minor_allelic_frequency": "2.0E-4", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIP->NIT)."
        }, 
        {
            "sequence_org": "A", 
            "alt_nt": "T", 
            "chr_id": "7", 
            "ref_nt": "C", 
            "chr_pos": "108055990", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746192876", 
                    "id": "rs746192876", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746192876", 
                    "id": "rs746192876", 
                    "database": "ExAC"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs746192876", 
                    "id": "rs746192876", 
                    "database": "gnomAD"
                }
            ], 
            "sequence_mut": "T", 
            "start_pos": 1133, 
            "keywords": [
                "ebi", 
                "germline"
            ], 
            "end_pos": 1133, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRA->NRT)."
        }, 
        {
            "sequence_org": "S", 
            "start_pos": 1335, 
            "alt_nt": "A", 
            "chr_id": "7", 
            "ref_nt": "G", 
            "chr_pos": "107689889", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "4362", 
                            "url": "http://disease-ontology.org/term/DOID:4362", 
                            "resource": "Disease Ontology", 
                            "name": "cervical neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "4362", 
                            "url": "http://disease-ontology.org/term/DOID:4362", 
                            "resource": "Disease Ontology", 
                            "name": "cervix cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "4362", 
                            "url": "http://disease-ontology.org/term/DOID:4362", 
                            "resource": "Disease Ontology", 
                            "name": "cervix uteri cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "4362", 
                            "url": "http://disease-ontology.org/term/DOID:4362", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of uterine cervix", 
                            "description": ""
                        }, 
                        {
                            "id": "4362", 
                            "url": "http://disease-ontology.org/term/DOID:4362", 
                            "resource": "Disease Ontology", 
                            "name": "tumor of the Cervix Uteri", 
                            "description": ""
                        }, 
                        {
                            "id": "4362", 
                            "url": "http://disease-ontology.org/term/DOID:4362", 
                            "resource": "Disease Ontology", 
                            "name": "uterine cervical neoplasm", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "4362", 
                        "url": "http://disease-ontology.org/term/DOID:4362", 
                        "resource": "Disease Ontology", 
                        "name": "cervical cancer", 
                        "description": "A female reproductive organ cancer that is located_in the cervix."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", 
                    "id": "A4D0S4", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.3", 
            "sequence_mut": "F", 
            "subjects_tested": "350", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NTS->NTF).", 
            "end_pos": 1335, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "P", 
            "alt_nt": "A", 
            "chr_id": "7", 
            "ref_nt": "G", 
            "chr_pos": "108065893", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768639875", 
                    "id": "rs768639875", 
                    "database": "dbSNP"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768639875", 
                    "id": "rs768639875", 
                    "database": "ExAC"
                }, 
                {
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs768639875#frequency_tab", 
                    "id": "rs768639875", 
                    "database": "TOPMed"
                }, 
                {
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs768639875", 
                    "id": "rs768639875", 
                    "database": "gnomAD"
                }
            ], 
            "sequence_mut": "L", 
            "start_pos": 902, 
            "keywords": [
                "ebi", 
                "germline"
            ], 
            "end_pos": 902, 
            "minor_allelic_frequency": "", 
            "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NLS)."
        }, 
        {
            "sequence_org": "S", 
            "start_pos": 723, 
            "alt_nt": "A", 
            "chr_id": "7", 
            "ref_nt": "T", 
            "chr_pos": "107710288", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "11054", 
                            "url": "http://disease-ontology.org/term/DOID:11054", 
                            "resource": "Disease Ontology", 
                            "name": "bladder cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "11054", 
                            "url": "http://disease-ontology.org/term/DOID:11054", 
                            "resource": "Disease Ontology", 
                            "name": "tumor of the bladder", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "11054", 
                        "url": "http://disease-ontology.org/term/DOID:11054", 
                        "resource": "Disease Ontology", 
                        "name": "urinary bladder cancer", 
                        "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", 
                    "id": "A4D0S4", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "1.0", 
            "sequence_mut": "C", 
            "subjects_tested": "103", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%).", 
            "end_pos": 723, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }, 
        {
            "sequence_org": "Q", 
            "start_pos": 1369, 
            "alt_nt": "A", 
            "chr_id": "7", 
            "ref_nt": "G", 
            "chr_pos": "107689788", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "Thyroid gland neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumour of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "thyroid neoplasm", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "1781", 
                        "url": "http://disease-ontology.org/term/DOID:1781", 
                        "resource": "Disease Ontology", 
                        "name": "thyroid gland cancer", 
                        "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", 
                    "id": "A4D0S4", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "2.0", 
            "sequence_mut": "*", 
            "subjects_tested": "50", 
            "keywords": [
                "biomuta", 
                "somatic", 
                "cancer", 
                "disease"
            ], 
            "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", 
            "end_pos": 1369, 
            "minor_allelic_frequency": "", 
            "subjects_positive": "1"
        }
    ], 
    "refseq": {
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", 
        "ac": "NP_001304975.1", 
        "name": "laminin subunit beta-4 isoform 1 precursor", 
        "summary": ""
    }, 
    "go_annotation": {
        "categories": [
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A4D0S4", 
                                "id": "A4D0S4", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "extracellular matrix structural constituent", 
                        "id": "GO:0005201"
                    }
                ], 
                "total": 1, 
                "name": "Molecular Function"
            }, 
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043256", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A4D0S4", 
                                "id": "A4D0S4", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "laminin complex", 
                        "id": "GO:0043256"
                    }
                ], 
                "total": 1, 
                "name": "Cellular Component"
            }, 
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A4D0S4", 
                                "id": "A4D0S4", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "cell migration", 
                        "id": "GO:0016477"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A4D0S4", 
                                "id": "A4D0S4", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "animal organ morphogenesis", 
                        "id": "GO:0009887"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034446", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A4D0S4", 
                                "id": "A4D0S4", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "substrate adhesion-dependent cell spreading", 
                        "id": "GO:0034446"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009888", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A4D0S4", 
                                "id": "A4D0S4", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "tissue development", 
                        "id": "GO:0009888"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070831", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A4D0S4", 
                                "id": "A4D0S4", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "basement membrane assembly", 
                        "id": "GO:0070831"
                    }
                ], 
                "total": 5, 
                "name": "Biological Process"
            }
        ]
    }, 
    "gene_names": [
        {
            "url": "https://www.uniprot.org/uniprot/A4D0S4", 
            "type": "recommended", 
            "resource": "UniProtKB", 
            "name": "LAMB4"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/A4D0S4", 
            "type": "synonym", 
            "resource": "RefSeq", 
            "name": "LAMB4"
        }
    ], 
    "crossref": [
        {
            "url": "https://pharos.nih.gov/targets/A4D0S4", 
            "id": "A4D0S4", 
            "database": "PHAROS"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR002049", 
            "id": "IPR002049", 
            "database": "InterPro"
        }, 
        {
            "url": "http://www.omim.org/entry/616380", 
            "id": "616380", 
            "database": "MIM"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR008211", 
            "id": "IPR008211", 
            "database": "InterPro"
        }, 
        {
            "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", 
            "id": "A4D0S4", 
            "database": "BioMuta"
        }, 
        {
            "url": "http://pfam.xfam.org/family/PF00055", 
            "id": "PF00055", 
            "database": "Pfam"
        }, 
        {
            "url": "http://pfam.xfam.org/family/PF00053", 
            "id": "PF00053", 
            "database": "Pfam"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", 
            "id": "NP_001304975.1", 
            "database": "RefSeq"
        }, 
        {
            "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB4", 
            "id": "LAMB4", 
            "database": "GeneCards"
        }, 
        {
            "url": "https://www.ebi.ac.uk/intact/interactors/id:A4D0S4*", 
            "id": "A4D0S4", 
            "database": "IntAct"
        }, 
        {
            "url": "https://www.nextprot.org/entry/NX_A4D0S4", 
            "id": "NX_A4D0S4", 
            "database": "neXtProt"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/gene/22798", 
            "id": "22798", 
            "database": "GeneID"
        }, 
        {
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:22798", 
            "id": "hsa:22798", 
            "database": "KEGG Pathway"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR038684", 
            "id": "IPR038684", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR013015", 
            "id": "IPR013015", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6491", 
            "id": "6491", 
            "database": "HGNC"
        }, 
        {
            "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL2364187", 
            "id": "CHEMBL2364187", 
            "database": "ChEMBL"
        }, 
        {
            "url": "https://omabrowser.org/oma/group/RRCSCHP/", 
            "id": "RRCSCHP", 
            "database": "OMA"
        }, 
        {
            "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091128", 
            "id": "ENSG00000091128", 
            "database": "Bgee"
        }, 
        {
            "url": "http://www.orthodb.org/?query=65841at2759", 
            "id": "65841at2759", 
            "database": "OrthoDB"
        }, 
        {
            "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A4D0S4", 
            "id": "PR_A4D0S4", 
            "database": "PRO"
        }
    ], 
    "expression_disease": [
        {
            "name": "Prostate cancer [DO disease name]", 
            "trend": "Up", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "10283", 
                            "url": "http://disease-ontology.org/term/DOID:10283", 
                            "resource": "Disease Ontology", 
                            "name": "NGP - new growth of prostate", 
                            "description": ""
                        }, 
                        {
                            "id": "10283", 
                            "url": "http://disease-ontology.org/term/DOID:10283", 
                            "resource": "Disease Ontology", 
                            "name": "hereditary prostate cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "10283", 
                            "url": "http://disease-ontology.org/term/DOID:10283", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of the prostate", 
                            "description": ""
                        }, 
                        {
                            "id": "10283", 
                            "url": "http://disease-ontology.org/term/DOID:10283", 
                            "resource": "Disease Ontology", 
                            "name": "prostate cancer, familial", 
                            "description": ""
                        }, 
                        {
                            "id": "10283", 
                            "url": "http://disease-ontology.org/term/DOID:10283", 
                            "resource": "Disease Ontology", 
                            "name": "prostate neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "10283", 
                            "url": "http://disease-ontology.org/term/DOID:10283", 
                            "resource": "Disease Ontology", 
                            "name": "prostatic cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "10283", 
                            "url": "http://disease-ontology.org/term/DOID:10283", 
                            "resource": "Disease Ontology", 
                            "name": "prostatic neoplasm", 
                            "description": ""
                        }, 
                        {
                            "id": "10283", 
                            "url": "http://disease-ontology.org/term/DOID:10283", 
                            "resource": "Disease Ontology", 
                            "name": "tumor of the prostate", 
                            "description": ""
                        }
                    ], 
                    "recommended_name": {
                        "id": "10283", 
                        "url": "http://disease-ontology.org/term/DOID:10283", 
                        "resource": "Disease Ontology", 
                        "name": "prostate cancer", 
                        "description": "A male reproductive organ cancer that is located_in the prostate."
                    }
                }
            ], 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D0S4", 
                    "id": "A4D0S4", 
                    "database": "BioXpress"
                }
            ], 
            "url": "http://disease-ontology.org/term/DOID:10283", 
            "significant": "No"
        }, 
        {
            "name": "Esophageal cancer [DO disease name]", 
            "trend": "Down", 
            "disease": [
                {
                    "synonyms": [
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "Ca lower third oesophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "Ca middle third oesophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "esophagus cancer", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of distal third of esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of lower third of oesophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of middle third of oesophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of proximal third of esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant neoplasm of upper third esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of Distal Third of esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of Proximal Third of esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of abdominal esophagus", 
                            "description": ""
                        }, 
                        {
                            "id": "5041", 
                            "url": "http://disease-ontology.org/term/DOID:5041", 
                            "resource": "Disease Ontology", 
                            "name": "malignant tumor of the middle Third of the esophagus", 
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                        {
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                            "resource": "Disease Ontology", 
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                        {
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                            "resource": "Disease Ontology", 
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                        {
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                            "resource": "Disease Ontology", 
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                            "description": ""
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                        {
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                            "resource": "Disease Ontology", 
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                            "description": ""
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                        {
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                            "resource": "Disease Ontology", 
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                        {
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                            "resource": "Disease Ontology", 
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                            "description": ""
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                        {
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                            "resource": "Disease Ontology", 
                            "name": "primary liver cancer", 
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                        {
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                            "resource": "Disease Ontology", 
                            "name": "primary malignant neoplasm of Liver", 
                            "description": ""
                        }, 
                        {
                            "id": "3571", 
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                            "resource": "Disease Ontology", 
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                        }, 
                        {
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                            "resource": "Disease Ontology", 
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                            "url": "http://disease-ontology.org/term/DOID:3910", 
                            "resource": "Disease Ontology", 
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                            "description": ""
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                        {
                            "id": "3910", 
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                            "resource": "Disease Ontology", 
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                            "description": ""
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            ], 
            "url": "http://disease-ontology.org/term/DOID:3910", 
            "significant": "No"
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        {
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                            "id": "3907", 
                            "url": "http://disease-ontology.org/term/DOID:3907", 
                            "resource": "Disease Ontology", 
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                            "description": ""
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            "significant": "Yes"
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                            "url": "http://disease-ontology.org/term/DOID:1781", 
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                            "description": ""
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                        {
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                            "description": ""
                        }, 
                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "neoplasm of thyroid gland", 
                            "description": ""
                        }, 
                        {
                            "id": "1781", 
                            "url": "http://disease-ontology.org/term/DOID:1781", 
                            "resource": "Disease Ontology", 
                            "name": "thyroid neoplasm", 
                            "description": ""
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            ], 
            "url": "http://disease-ontology.org/term/DOID:1781", 
            "significant": "No"
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        {
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        {
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                    "id": "ENSG00000091128", 
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    ], 
    "gene": [
        {
            "url": "https://www.uniprot.org/uniprot/A4D0S4", 
            "name": "LAMB4", 
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                "start_pos": 108130356, 
                "chromosome": "7", 
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        }
    ], 
    "protein_names": [
        {
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            "type": "synonym", 
            "resource": "RefSeq", 
            "name": "laminin beta-1-related protein"
        }, 
        {
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            "type": "synonym", 
            "resource": "RefSeq", 
            "name": "laminin subunit beta-4 isoform 1 precursor"
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A4D0S4", 
            "type": "synonym", 
            "resource": "UniProtKB", 
            "name": "Laminin beta-1-related protein"
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A4D0S4", 
            "type": "recommended", 
            "resource": "UniProtKB", 
            "name": "Laminin subunit beta-4"
        }
    ]
}