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Gene(s) annotations

Available GET parameters:

add-all-data = 1 or 0 
add-region-databases = 1 or 0 
expand-pubmed-articles = 1 or 0 
add-main-data-points = 1 or 0 
add-varsome-user-entries = 1 or 0 
add-source-databases = all or none or fda-pharmacogenomic-biomarkers,gnomad-genes,unil-domino,dgi,exac-genes,cancer-gene-census,genomics-england-panelapp,cpic,pharmgkb,gene-pubmed-automap,ghr-genes,dbnsfp-genes,weill-cornell-medicine-pmkb,jax-ckb,cgd,aact,civic,clingen-gene 
allele-frequency-threshold = float 
add-ACMG-annotation = 1 or 0 
minimum-clinvar-stars = 0 or 1 or 2 or 3 or 4 
exclude-source-databases = fda-pharmacogenomic-biomarkers,gnomad-genes,unil-domino,dgi,exac-genes,cancer-gene-census,genomics-england-panelapp,cpic,pharmgkb,gene-pubmed-automap,ghr-genes,dbnsfp-genes,weill-cornell-medicine-pmkb,jax-ckb,cgd,aact,civic,clingen-gene 
use-canonical-transcript = 1 or 0 
override-transcript = str 
add-AMP-annotation = 1 or 0 
cancer-type = str 
tissue-type = str 
sex = Female or Male or f or m or female or male 
age = int 
ethnicity = AFR or ASJ or EAS or FIN or NFE or AMR or SAS or OTH 
annotation-mode = somatic or germline
GET /lookup/gene/TP53/hg19?add-all-data=1
HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Cache-Control: max-age=300
Content-Type: application/json
ETag: "ed5a10e3b14978343f934df154c2ad9d"
Vary: Accept

{
    "symbol": "TP53",
    "gene_id": 33956,
    "description": "tumor protein p53",
    "synonyms": [
        "LFS1",
        "p53"
    ],
    "cgd": {
        "version": "15-Jun-2021",
        "pub_med_references": [
            1349175,
            1565143,
            1565144,
            1591732,
            1679237,
            1978757,
            3409256,
            6016796,
            7887414,
            8118819,
            8718514,
            9242456,
            10612830,
            11219776,
            11332399,
            11481490,
            11498785,
            11600572,
            12085209,
            12524418,
            12610779,
            12619118,
            14583457,
            15381368,
            15695383,
            15741269,
            15977174,
            18762572,
            19171829,
            19556618,
            19652052,
            20301488,
            21056402,
            21601526,
            21837677,
            21946351,
            21990040,
            22170717,
            22551548,
            22672556,
            22878818,
            22939227,
            23015295,
            23175693,
            23355100,
            23409989,
            23667851,
            23894400,
            30146126
        ],
        "condition": "Li-Fraumeni syndrome; Choroid plexus papilloma; Ependymoma, intracranial; Osteogenic sarcoma; Breast cancer, familial; Hepatoblastoma; Non-Hodgkin lymphoma; Adrenocortical carcinoma; Colorectal cancer; Bone marrow failure syndrome 5",
        "inheritance": "AD",
        "age_group": "Pediatric",
        "intervention_categories": [
            "Oncologic"
        ],
        "comments": "Variants may also be involved in susceptibility to a number of types of neoplasms (eg, Basal cell carcinoma, susceptibility to, Glioma, susceptibility to)",
        "intervention": null
    },
    "civic": {
        "version": "13-Jul-2021",
        "items": [
            {
                "variant": "Deleterious Mutation",
                "variant_summary": "Deleterious mutations are mutations of TP53 with prior characterization demonstrating significant deleterious effect on TP53 protein function. Inactivating TP53 mutations prevent on target activity and efficacy of MDM2-TP53 interaction inhibitors.",
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/221",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    22090360
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "In a study of 74 patients with head and neck squamous cell carcinoma, those with disruptive mutations in TP53 had shorter overall survival and a higher rate of locoregional recurrence than those without mutations or with nondisruptive mutations.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/517",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Head and Neck Squamous Cell Carcinoma",
                "rating": "3",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "5520"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    8901856
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "Unlike other studies, in this study of 110 patients with head and neck squamous cell carcinoma, there was no significant difference in the overall survival of patients with and without any TP53 mutations.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Does Not Support",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/518",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Head and Neck Squamous Cell Carcinoma",
                "rating": "3",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "5520"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    19941080
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "In a retrospective study of patients with esophageal carcinoma, those with mutations in TP53 had worse overall survival.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/519",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Esophageal Squamous Cell Carcinoma",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "3748"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    22699455
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "In children with bone marrow relapsed B-cell precursor acute lymphoblastic leukemia, in multivariate analysis those with mutations in TP53 had worse event-free survival than patients without mutations.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/520",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "B-Cell Acute Lymphoblastic Leukemia",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "0080630"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    24836762
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "In patients with myelodysplastic syndrome, in a multivariate analysis those with mutations in TP53 had shorter overall survival than wild-type patients.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/521",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Myelodysplastic Syndrome",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "0050908"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    17215851
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "In patients with myeloma, those with mutations in TP53 had worse overall survival than those without.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/522",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Myeloid Neoplasm",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "0070004"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    11325447
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "Tumors from 114 patients with head and neck squamous cell carcinoma were analyzed for TP53 mutations, 21 of which were treated with surgery. Unlike those treated with radiotherapy, those treated with surgery did not show a significant difference in rates of loco-regional control between those with and without mutations in TP53.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Does Not Support",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/523",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Head and Neck Squamous Cell Carcinoma",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "5520"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    11325447
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "Tumors from 114 patients with head and neck squamous cell carcinoma were analyzed for TP53 mutations. Of the 93 patients treated with radiotherapy, patients with mutations in TP53 had lower rates of loco-regional control and shorter disease-free, disease-specific, and overall survival.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/524",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Head and Neck Squamous Cell Carcinoma",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "5520"
            },
            {
                "variant": "Truncating Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/223",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    21467160
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "In patients with head and neck squamous cell carcinoma, in a multivariate analysis those with truncating mutations in TP53 had worse progression-free and overall survival than wild-type patients.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/525",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Head and Neck Squamous Cell Carcinoma",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "5520"
            },
            {
                "variant": "Truncating Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/223",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    21467160
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "In patients with head and neck squamous cell carcinoma, when comparing patients with any mutation in TP53 to wild-type, there was not a significant difference in overall survival in a multivariate analysis.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Does Not Support",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/526",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Head and Neck Squamous Cell Carcinoma",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "5520"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    21747090
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "In relapsed B-ALL patients, TP53 mutations were associated with morphologic nonresponse to therapy (>5% blasts in the bone marrow after 9 weeks of treatment) as well as reduced event free and overall survival when compared to TP53 wildtype patients.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/640",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "B-Cell Acute Lymphoblastic Leukemia",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "0080630"
            },
            {
                "variant": "DNA Binding Domain Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/242",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    12509970
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "Oral squamous cell carcinoma patients with TP53 mutations in the DNA binding domain (L2, L3 and the LSH motif) have significantly reduced cumulative survival when compared to patients with TP53 mutations outside of this DNA binding domain. These mutations were also significantly associated with locoregional failure, cervical lymph node metastasis and distant metastasis, likely contributing to this finding.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/641",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Oral Squamous Cell Carcinoma",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "0050866"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    24740294
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "B",
                "evidence_statement": "In this meta-analysis of 13 studies (564 patients) p53 positivity as defined by high protein expression and/or p53 mutation was associated with improved response to chemotherapy (risk ratio [RR] = 0.704; 95% confidence intervals [CI] = 0.550-0.903; P = 0.006).",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/850",
                "drugs": [
                    "Chemotherapy"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Gastric Adenocarcinoma",
                "rating": "3",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "3717"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    22698404
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "D",
                "evidence_statement": "In this preclinical study, MMTV-Wnt1 mammary tumors with mutant TP53 showed a better clinical response to chemotherapy (doxorubicin) than TP53 wild-type tumors. This was mediated by wild-type TP53-induced cell-arrest under chemotherapy even in the context of heterozygous TP53 point mutations or absence of p21. Thus the status of both TP53 alleles should be assessed because even one copy of wild-type TP53 may contribute to poor response to chemotherapy.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/851",
                "drugs": [
                    "Doxorubicin"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Breast Cancer",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "1612"
            },
            {
                "variant": "Wildtype",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/369",
                "variant_origin": null,
                "pub_med_references": [
                    24957073
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "B",
                "evidence_statement": "In this retrospective biomarker analysis of the EXPERT-C trial, patients with TP53 wild-type status had a statistically significant better progression free survival (PFS) (89.3% vs 65.0% at 5 years; hazard ratio [HR] = 0.23; 95% confidence interval [CI] = 0.07 to 0.78; two-sided P = .02 by Cox regression) and overall survival (OS) (92.7% vs 67.5% at 5 years; HR = 0.16; 95% CI = 0.04 to 0.70; two-sided P = .02 by Cox regression) when treated with Cetuximab + CAPOX (Capecitabine, Oxaliplatin) than in the control arm without Cetuximab.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/875",
                "drugs": [
                    "Oxaliplatin",
                    "Capecitabine",
                    "Cetuximab"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Colorectal Cancer",
                "rating": "3",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "9256"
            },
            {
                "variant": "Wildtype",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/369",
                "variant_origin": null,
                "pub_med_references": [
                    23515910
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "B",
                "evidence_statement": "Patients with p53 wild type (as defined by low expression and/or wild-type tp53 gene) had a higher response rate to chemotherapy-based treatment (total major response [MR]: risk ratio [RR] = 1.09, 95 % CI = 1.03-1.16, P = .003; pathological MR: RR = 1.15, 95 % CI = 1.06-1.25, P = .001; total complete response [CR]: RR = 1.08, 95 % CI = 1.00-1.17, P = .040) in this meta-analysis (28 studies, 1497 cases).",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/906",
                "drugs": [
                    "Chemotherapy"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Carcinoma of Esophagus",
                "rating": "3",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "1107"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    26771088
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "In a study of 97 patients with AML  treated with HSCT, 40 had TP53 mutations comprising a total of 44 mutations. Patients with a TP53 mutation had a reduced three year probability of overall survival and event-free survival compared to patients with the wild-type TP53.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1018",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Acute Myeloid Leukemia",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "9119"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    15922892
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "TP53 mutation was shown to be associated with shorter overall survival in patients with adrenocortical tumors (log-rank test; P=0.098). Of 20 patients studied, 5 had coding mutation in TP53. Four of the 5 patients with a TP53 mutation had metastases at diagnosis or detected soon thereafter, and 3 of 4 died of disease within 12 months of surgical resection.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1028",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Adrenal Cortex Carcinoma",
                "rating": "2",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "3948"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    22425996
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "D",
                "evidence_statement": "A clinical trial comparing selumetinib and docetaxel vs. docetaxel and placebo in KRAS mutant NSCLC was recapitulated in mice. Tumors were induced in lung epithelium by nasal instillation of CRE-bearing adenovirus in conditionally targeted mice. Kras(G12D) and Trp53 knockout mutant mice were resistant to docetaxel monotherapy but sensitive to combined treatment. In a small number of human NSCLC patients with these genotypes FDG-PET signal intensity changes and pERK IHC staining correlated with mouse data.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1145",
                "drugs": [
                    "Selumetinib",
                    "Docetaxel"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Non-Small Cell Lung Carcinoma ",
                "rating": "3",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "3908"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    22425996
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "D",
                "evidence_statement": "A clinical trial comparing selumetinib and docetaxel vs. docetaxel and placebo in KRAS mutant NSCLC was recapitulated in mice. Tumors were induced in lung epithelium by nasal instillation of CRE-bearing adenovirus in conditionally targeted mice. Kras(G12D) and Trp53 knockout mutant mice were resistant to docetaxel monotherapy but sensitive to combined treatment. In a small number of human NSCLC patients with these genotypes FDG-PET signal intensity changes and pERK IHC staining correlated with mouse data.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1146",
                "drugs": [
                    "Docetaxel"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Non-Small Cell Lung Carcinoma ",
                "rating": "3",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "3908"
            },
            {
                "variant": "Deleterious Mutation",
                "variant_summary": "Deleterious mutations are mutations of TP53 with prior characterization demonstrating significant deleterious effect on TP53 protein function. Inactivating TP53 mutations prevent on target activity and efficacy of MDM2-TP53 interaction inhibitors.",
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/221",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    26899019
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "Pooled analysis of TP53 mutations (exons 5-8) from 4 randomized trials (IALT, JBR10, CALGB-9633 and ANITA). Mutations (434; 36%) had no prognostic effect (OBS: HROS=0.99; [95%CI 0.77-1.28], p=0.95; HRDFS=0.99 [0.78-1.25], p=0.92) but were marginally predictive of benefit from ACT for OS (test for interaction: OS: p=0.06; DFS: p=0.11).",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Does Not Support",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1147",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Non-Small Cell Lung Carcinoma ",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "3908"
            },
            {
                "variant": "Deleterious Mutation",
                "variant_summary": "Deleterious mutations are mutations of TP53 with prior characterization demonstrating significant deleterious effect on TP53 protein function. Inactivating TP53 mutations prevent on target activity and efficacy of MDM2-TP53 interaction inhibitors.",
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/221",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    26899019
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "B",
                "evidence_statement": "Pooled analysis of TP53 mutations (exons 5-8) from 4 randomized trials (IALT, JBR10, CALGB-9633 and ANITA) of platinum-based adjuvant chemotherapy (ACT) versus observation (OBS). Patients with TP53wt had significantly better PFS and OS with ACT vs. OBS (p=0.005, p=0.02, respectively) whereas patients with TP53 mutations did not show significant differences in PFS and OS between ACT and OBS (p=0.86, p=0.63).",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Does Not Support",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1148",
                "drugs": [
                    "Adjuvant Chemotherapy"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Non-Small Cell Lung Carcinoma ",
                "rating": "2",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "3908"
            },
            {
                "variant": "Wildtype",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/369",
                "variant_origin": null,
                "pub_med_references": [
                    26899019
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "B",
                "evidence_statement": "Pooled analysis of TP53 mutations (exons 5-8) from 4 randomized trials (IALT, JBR10, CALGB-9633 and ANITA, 1209 patients, median follow-up 5.5 years) of platinum-based adjuvant chemotherapy (ACT) versus observation (OBS). Patients with wild-type TP53 had better outcomes with ACT than OBS (HROS=0.77 [0.62-0.95], p=0.02; HRDFS=0.75 [0.62-0.92], p=0.005).",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1149",
                "drugs": [
                    "Adjuvant Chemotherapy"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Non-Small Cell Lung Carcinoma ",
                "rating": "3",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "3908"
            },
            {
                "variant": "Deleterious Mutation",
                "variant_summary": "Deleterious mutations are mutations of TP53 with prior characterization demonstrating significant deleterious effect on TP53 protein function. Inactivating TP53 mutations prevent on target activity and efficacy of MDM2-TP53 interaction inhibitors.",
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/221",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    26646755
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "B",
                "evidence_statement": "19 advanced sarcoma patients treated with pazopanib were retrospectively assessed for mutations associated with response using the Foundation one sarcoma/heme panel. Progression-free survival (PFS) of patients with TP53 mutations (all predicted to be loss of function) was significantly greater than TP53 wild-type tumors with the median PFS of 208 versus 136 days, respectively [P = 0.036, hazards ratio 0.38 (95% confidence interval 0.09-0.83)].",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1170",
                "drugs": [
                    "Pazopanib"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Sarcoma",
                "rating": "2",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "1115"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    8241511
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "A study of 53 patients with B-CLL found a significant resistance to chemotherapy and corresponding poor clinical outcomes among the 7 treated patients with p53 mutations compared to the 29 treated patients without.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1450",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "B-Cell Chronic Lymphocytic Leukemia",
                "rating": "3",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "1040"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    18689542
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "In a study of 126 patients with long-term follow-up, TP53 mutations were significantly associated with shorter median survival in patients (P = 0.002) from time of diagnosis. The median survival from the time of first observation of a TP53 mutation was much more pronounced (P = <0.001). These findings were statistically independent of 17p deletions.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1451",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "B-Cell Chronic Lymphocytic Leukemia",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "1040"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    20697090
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "The authors analyzed 328 patients with CLL, of which 28 were identified to have TP53 mutations. Patients with TP53 mutations were found to have significantly shorter progression-free (HR = 3.8; P < 0.001) and overall survival (HR = 7.2; P < 0.001).",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1452",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "B-Cell Chronic Lymphocytic Leukemia",
                "rating": "5",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "1040"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    21483000
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "In the CLL4 trial assessing first line treatment with chlorambucil or fludarabine with or without cyclophosphamide, patients with TP53 mutations experienced poorer overall response rates (27% vs 83%), shorter progression free survival (5 year PFS 5% vs 17%), and overall survival (20% vs 59%) compared to patients without TP53 mutations.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1478",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "B-Cell Chronic Lymphocytic Leukemia",
                "rating": "3",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "1040"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    14726385
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "B",
                "evidence_statement": "Thirty-six patients with CLL were treated with alemtuzumab. Partial or complete response was achieved in 6 of 15 patients with p53 mutations, compared to 4 of 21 without. These findings are not statistically significant, but the authors suggest that alemtuzumab is an effective therapy for patients with p53 mutations or deletions.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1481",
                "drugs": [
                    "Alemtuzumab"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "B-Cell Chronic Lymphocytic Leukemia",
                "rating": "2",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "1040"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    24943832
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "In a multivariate analysis of 774 CLL patients, TP53 aberrations were significantly correlated with shorter time to first treatment (HR=2.081; 95% CI=1.431-3.021). This finding was independent of IGHV mutation status.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1485",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "B-Cell Chronic Lymphocytic Leukemia",
                "rating": "5",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "1040"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    26837699
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "A",
                "evidence_statement": "In a cohort of 406 patients with CLL, those patients with clonal or sub-clonal mutations in TP53 had significantly shorter overall survival (HR: 1.71; 95% CI: 1.28-2.26; P = .0001).",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1507",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "B-Cell Chronic Lymphocytic Leukemia",
                "rating": "5",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "1040"
            },
            {
                "variant": "Overexpression",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/1306",
                "variant_origin": null,
                "pub_med_references": [
                    11595686
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "p53 overexpression (>10% positive stained nuclei) was found in 110 cases from a 178 patient cohort with invasive ovarian carcinoma who had undergone surgery. Overexpression of p53 was correlated with poor differentiation (p<0.001) and high S-phase fraction (p<0.001).",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/2697",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Ovarian Cancer",
                "rating": "3",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "2394"
            },
            {
                "variant": "ALTERATION",
                "variant_summary": "P53 ALTERATION is a bucket type variant used in studies which is constructed by combining all cases of p53 mutation together with p53 overexpression. This includes cases which have p53 mutation or overexpression alone or as well as cases where both occur in combination.",
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/1307",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    11595686
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "B",
                "evidence_statement": "In a group of patients with invasive ovarian carcinoma who had undergone surgery, a subset of 74 patients treated with platinum based chemotherapy were assessed for  p53 alteration (p53 mutation or p53 overexpression by immunostaining >10% positive). Significant decreased time to progression (p=0.037) was seen in the subset of  patients with p53 alteration (n=54) in comparison to the group with normatl p53 (n=20)",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/2771",
                "drugs": [
                    "Carboplatin",
                    "Cisplatin"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Ovarian Cancer",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "2394"
            },
            {
                "variant": "DNA Binding Domain Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/242",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    10786679
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "B",
                "evidence_statement": "In a study 202 breast cancer patients undergoing first line tamoxifen treatment, 65 patients had mutations in TP53. Among the p53 wild type population a 66% response rate was reported, where response was considered as complete response, partial response or stable disease. In a patient subgroup with mutations in p53 amino acids that directly interact with DNA, 2 of 11 (18%) of patients responded to tamoxifen.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/2783",
                "drugs": [
                    "Tamoxifen"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Breast Cancer",
                "rating": "3",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "1612"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    10786679
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "C",
                "evidence_statement": "In a study 202 breast cancer patients undergoing tamoxifen treatment, a higher frequency of wildtype TP53 patients responded to treatment compared to those with mutations in TP53 (66% wild-type vs. 31%, odds ratio (OR):0.22, 95CI:0.12-0.42, P<0.0001, univariate analysis; OR:0.29, 95% CI:0.12-0.42, P=0.0014, multivariate analysis). The median survival after start of therapy was shorter in patients with mutations in TP53 than for patients with wild-type TP53 (20mo vs. 29mo, HR:1.99,95% CI:1.43-2.75, P<0.001). Breast cancer patients with TP53 mutations also had a decrease in progression-free survival (HR:2.61, 95% CI:1.90-3.6, P<0.001).",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/2784",
                "drugs": [
                    "Tamoxifen"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Breast Cancer",
                "rating": "1",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "1612"
            },
            {
                "variant": "Overexpression",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/1306",
                "variant_origin": null,
                "pub_med_references": [
                    14514923
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "B",
                "evidence_statement": "In a Phase II trial of 25 patients with metastaic gastric cancer, patients received preoperative high dose chemotherapy (HDCT) consisting of etoposide, cisplatin and mitomycin. Patients with greater than 50% regression in response to HDCT received surgery. TP53 overexpression was assayed by immunohistochemistry. 14 patients showed p53 overexpression, and 12 of these qualified for resection. Overall survival in patients with p53 overexpression was 17.3 months in contrast to patients with negative p53 immunohistochemistry, where it was 7.2 months (p=0.0003).",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/2799",
                "drugs": [
                    "Etoposide",
                    "Cisplatin",
                    "Mitomycin"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Gastric Cancer",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "10534"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    14514923
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "C",
                "evidence_statement": "In a study of 25 patients with advanced gastric cancer, mutations in TP53 were identified in 32% of primary tumors. TP53 mutations were associated with an improved response to preoperative treatment of a modified EAP protocol (combination of doxorubicin, etoposide and cisplatin). Patients with mutations in TP53 had an increased median survival compared to patients with wildtype TP53 (18.5mo vs. 10.2mo, P=0.044).",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/2820",
                "drugs": [
                    "Etoposide",
                    "Cisplatin",
                    "Doxorubicin"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Gastric Carcinoma",
                "rating": "1",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "5517"
            },
            {
                "variant": "Wildtype",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/369",
                "variant_origin": null,
                "pub_med_references": [
                    17671205
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "D",
                "evidence_statement": "MDM2 Inhibitor Nutlin-3a induced senescence in presence of functional TP53 in murine primary fibroblasts, oncogenically transformed fibroblasts, and fibrosarcoma cell lines. Cells lacking functional TP53 were completely insensitive to the drug.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/2963",
                "drugs": [
                    "Nutlin-3a"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Cancer",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "162"
            },
            {
                "variant": "Wildtype",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/369",
                "variant_origin": null,
                "pub_med_references": [
                    25730903
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "D",
                "evidence_statement": "MDM2 Inhibitor screen in a panel of 260 cancer cell lines with well characterized TP53  status shows that only cancer cell lines with unaltered TP53 may be sensitive to MDM2 Inhibitor.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/2964",
                "drugs": [
                    "AMGMDS3"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Cancer",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "162"
            },
            {
                "variant": "Wildtype",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/369",
                "variant_origin": null,
                "pub_med_references": [
                    26459177
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "B",
                "evidence_statement": "Phase I Trial of RG7112 in 116 heavily pretreated patients with AML, ALL, CML, CLL, sCLL demonstrated sustained clinical improvement and induction of TP53 target genes in subset of patients with wild type TP53. 96 patients were tested for TP53 mutation and 19 cases of mutation were detected. No sustained clinical improvement or induction of TP53 target genes was observed in patients with mutant TP53.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/2965",
                "drugs": [
                    "RG7112"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Childhood Leukemia",
                "rating": "3",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "1240"
            },
            {
                "variant": "Deleterious Mutation",
                "variant_summary": "Deleterious mutations are mutations of TP53 with prior characterization demonstrating significant deleterious effect on TP53 protein function. Inactivating TP53 mutations prevent on target activity and efficacy of MDM2-TP53 interaction inhibitors.",
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/221",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    26459177
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "B",
                "evidence_statement": "Phase I Trial of MDM2 inhibitor RG7112 in 116 patients with AML, ALL, CML, CLL, sCLL demonstrated sustained clinical improvement and induction of TP53 target genes in subset of patients with wild type TP53. No sustained clinical improvement or induction of TP53 target genes was observed in patients with mutant TP53.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/2966",
                "drugs": [
                    "RG7112"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Childhood Leukemia",
                "rating": "3",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "1240"
            },
            {
                "variant": "Deleterious Mutation",
                "variant_summary": "Deleterious mutations are mutations of TP53 with prior characterization demonstrating significant deleterious effect on TP53 protein function. Inactivating TP53 mutations prevent on target activity and efficacy of MDM2-TP53 interaction inhibitors.",
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/221",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    25730903
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "D",
                "evidence_statement": "MDM2 Inhibitor screen in a panel of 260 cancer cell lines with well characterized TP53 status shows that only cancer cell lines with unaltered TP53 may be sensitive to MDM2 Inhibitor AMGMDS3, while those with p53 mutations demonstrated resistance.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/2967",
                "drugs": [
                    "AMGMDS3"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Cancer",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "162"
            },
            {
                "variant": "Deleterious Mutation",
                "variant_summary": "Deleterious mutations are mutations of TP53 with prior characterization demonstrating significant deleterious effect on TP53 protein function. Inactivating TP53 mutations prevent on target activity and efficacy of MDM2-TP53 interaction inhibitors.",
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/221",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    17671205
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "D",
                "evidence_statement": "MDM2 Inhibitor Nutlin-3a induced senescence in presence of functional TP53 in murine primary fibroblasts, oncogenically transformed fibroblasts, and fibrosarcoma cell lines. TP53 mutant cells lacking functional TP53 were completely insensitive to the drug.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/2968",
                "drugs": [
                    "Nutlin-3a"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Cancer",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "162"
            },
            {
                "variant": "CONSERVED DOMAIN MUT",
                "variant_summary": "This conserved domain mutation variant covers mutations in regions of p53 reported to be highly conserved during evolution. These regions span codons 117-143 (region II), 171-181 (region III), 234-258 (region (IV), and 270-286 (region V). Region I covers approximately codons 10 through 25 but does not appear in all studies on conserved domain mutations. There is overlap with these regions and reported regions of hotspot p53 mutations, where it is observed that hotspots for detrimental mutation correspond to more highly evolutionary conserved regions. While there is agreement and overlap between different reports, the literature does not seem to indicate an exact consensus on these regions of human p53 at this time, but the four highly conserved regions are part of the DNA binding domain, and are reported to exist within codons 97 to 292.",
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/1300",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    11595686
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "Patients with conserved domain p53 mutation (n=61) were compared with those with wild type or non-conserved domain p53 mutation (n=117) in a cohort of 178 invasive ovarian carcinoma patients who had undergone surgery. Overall survival was decreased in the cohort with conserved domian mutation (p=0.005).  Conserved domain mutation was an independent factor in univariate (but not multivariate) analysis of overall survival with relative risk 1.70 (1.17-2.47, p<0.007).",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/2993",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Ovarian Cancer",
                "rating": "3",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "2394"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/222",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    28453411
                ],
                "clinical_significance": null,
                "evidence_level": "B",
                "evidence_statement": "A pooled analysis to investigate the prognostic and predictive roles of TP53/KRAS and TP53/EGFR comutations (cm) in randomized trials of adjuvant chemotherapy compared to observational therapy encompassing a total of 3,553 patients. TP53/KRAS cm showed no prognostic effects but a borderline predictive effect (p=0,04) for negative effect of chemotherapy as compared to tp53/KRAS wt/wt. TP53/EGFR cm in was neither prognostic ( P = .83), nor significantly predictive ( P = .86). Similar results were observed for both groups for disease-free survival.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/2999",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Non-Small Cell Lung Carcinoma ",
                "rating": "5",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "3908"
            },
            {
                "variant": "Overexpression",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/1306",
                "variant_origin": null,
                "pub_med_references": [
                    11595686
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "B",
                "evidence_statement": "In a study involving patients with invasive ovarian carcinoma who had undergone surgery, a subset of 73 patients were classified via response to platinum-based chemotherapy as sensitive or resistant/refractory and tested for p53 overexpression (>10% postive stained nuclei). 78% of p53 negative patients were classified as sensitive, in compariston to 39% of p53 positive patients (p=0.001).",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/3013",
                "drugs": [
                    "Carboplatin",
                    "Cisplatin"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Ovarian Cancer",
                "rating": "3",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "2394"
            },
            {
                "variant": "ALTERATION",
                "variant_summary": "P53 ALTERATION is a bucket type variant used in studies which is constructed by combining all cases of p53 mutation together with p53 overexpression. This includes cases which have p53 mutation or overexpression alone or as well as cases where both occur in combination.",
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/1307",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    11595686
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "In a study of invasive ovarian carcinoma patients who had undergone surgery, the p53 alteration variant was defined as p53 mutation or p53 overexpression by immunostain (>10% positive). Patients with p53 alterations showed increase in poor tumor cell differentiation (p<0.001) and increase in tumor cellular S-phase fraction (p<0.001). Out of 178 patients, p53 alteration (n=132) was associated with decreased overall survival in comparison to normal p53 (n=46), p=0.007.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/3014",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Ovarian Cancer",
                "rating": "4",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "2394"
            },
            {
                "variant": "Overexpression",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/1306",
                "variant_origin": null,
                "pub_med_references": [
                    21525573
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "44 archival FFPE samples from confirmed cases of Wilms tumor with mean age 3 years 2 months, and taken from the most histologically aggressive parts of each tumor, were stained with p53 monoclonal antibody and the corresponding patient clinical data was analyzed. 24 samples were p53 positive, and did not correlate with age or sex. All tumors with unfavorable histology were p53 positive, in contrast to 13 of 33 tumors with favorable histology, with weak-moderate p53 signal (p<0.001). 2 year overall survival rate was 89.2% in p53 negative, and 55.7% for p53 positive cases (P = .01), and mean survival was 46 months in p53 negative and 26 months in p53 positive cases (P = .02). Compared with p53 negative, tumors with week to moderate p53 signal had HR 3.75 (P = .05), and high signal had HR 8.61 (P = .01). No significant correlation was seen between tumor clinicopathological stage and p53 expression.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/8945",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000269305.4",
                "disease": "Kidney Wilms Tumor",
                "rating": "3",
                "gene": "TP53",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/45",
                "entrez_id": "7157",
                "doid": "5176"
            }
        ]
    },
    "dbnsfp_genes": {
        "version": "4.1",
        "items": [
            {
                "kegg": {
                    "id": [
                        "hsa04010",
                        "hsa04110",
                        "hsa04115",
                        "hsa04210",
                        "hsa04310",
                        "hsa05030",
                        "hsa05040",
                        "hsa05210",
                        "hsa05212",
                        "hsa05213",
                        "hsa05214",
                        "hsa05215",
                        "hsa05216",
                        "hsa05217",
                        "hsa05218",
                        "hsa05219",
                        "hsa05220",
                        "hsa05222",
                        "hsa05223"
                    ],
                    "full": [
                        "MAPK signaling pathway",
                        "Cell cycle",
                        "p53 signaling pathway",
                        "Apoptosis",
                        "Wnt signaling pathway",
                        "Amyotrophic lateral sclerosis (ALS)",
                        "Huntington's disease",
                        "Colorectal cancer",
                        "Pancreatic cancer",
                        "Endometrial cancer",
                        "Glioma",
                        "Prostate cancer",
                        "Thyroid cancer",
                        "Basal cell carcinoma",
                        "Melanoma",
                        "Bladder cancer",
                        "Chronic myeloid leukemia",
                        "Small cell lung cancer",
                        "Non-small cell lung cancer"
                    ]
                },
                "expressions_rpkm": null,
                "gene_symbol": "TP53",
                "p_hi": 1.0,
                "gdi": 15.33,
                "gdi_phred": 0.5512,
                "loftool_score": 0.0009650000000000004,
                "hipred": true,
                "hipred_score": 0.8314,
                "ghis": 0.5992000000000001,
                "p_rec": 0.9998,
                "rvis_evs": -0.25,
                "rvis_evs_percentile": "35.99%",
                "essential_gene": "Essential",
                "essential_crispr": "Non essential",
                "essential_crispr2": "Context-specific essential",
                "essential_mutagenesis": "Non essential",
                "known_recessive_info": null,
                "indispensability_score": 1.0,
                "indispensability_pred": "Essential",
                "go": {
                    "molecular_function": [
                        "RNA polymerase II proximal promoter sequence-specific DNA binding",
                        "RNA polymerase II distal enhancer sequence-specific DNA binding",
                        "DNA-binding transcription factor activity, RNA polymerase II-specific",
                        "core promoter sequence-specific DNA binding",
                        "RNA polymerase II transcription factor binding",
                        "TFIID-class transcription factor complex binding",
                        "DNA-binding transcription activator activity, RNA polymerase II-specific",
                        "protease binding",
                        "p53 binding",
                        "DNA binding",
                        "chromatin binding",
                        "DNA-binding transcription factor activity",
                        "mRNA 3'-UTR binding",
                        "copper ion binding",
                        "protein binding",
                        "ATP binding",
                        "transcription factor binding",
                        "zinc ion binding",
                        "enzyme binding",
                        "protein kinase binding",
                        "protein phosphatase binding",
                        "receptor tyrosine kinase binding",
                        "ubiquitin protein ligase binding",
                        "histone acetyltransferase binding",
                        "identical protein binding",
                        "histone deacetylase binding",
                        "protein self-association",
                        "transcription regulatory region DNA binding",
                        "protein heterodimerization activity",
                        "protein N-terminus binding",
                        "chaperone binding",
                        "protein phosphatase 2A binding",
                        "disordered domain specific binding",
                        "promoter-specific chromatin binding"
                    ],
                    "biological_process": [
                        "negative regulation of transcription by RNA polymerase II",
                        "DNA strand renaturation",
                        "base-excision repair",
                        "nucleotide-excision repair",
                        "regulation of transcription, DNA-templated",
                        "autophagy",
                        "cellular response to DNA damage stimulus",
                        "DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest",
                        "DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator",
                        "ER overload response",
                        "cell cycle arrest",
                        "Ras protein signal transduction",
                        "multicellular organism development",
                        "cell aging",
                        "protein localization",
                        "cell population proliferation",
                        "negative regulation of cell population proliferation",
                        "determination of adult lifespan",
                        "mRNA transcription",
                        "response to gamma radiation",
                        "positive regulation of gene expression",
                        "viral process",
                        "protein deubiquitination",
                        "cytokine-mediated signaling pathway",
                        "cell differentiation",
                        "negative regulation of cell growth",
                        "DNA damage response, signal transduction by p53 class mediator",
                        "chromatin assembly",
                        "mitotic G1 DNA damage checkpoint",
                        "positive regulation of protein oligomerization",
                        "cellular response to UV",
                        "cellular response to drug",
                        "cellular response to glucose starvation",
                        "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator",
                        "regulation of apoptotic process",
                        "positive regulation of apoptotic process",
                        "negative regulation of apoptotic process",
                        "entrainment of circadian clock by photoperiod",
                        "negative regulation of transcription, DNA-templated",
                        "positive regulation of transcription, DNA-templated",
                        "positive regulation of RNA polymerase II transcriptional preinitiation complex assembly",
                        "positive regulation of transcription by RNA polymerase II",
                        "response to antibiotic",
                        "positive regulation of protein export from nucleus",
                        "regulation of mitochondrial membrane permeability",
                        "negative regulation of fibroblast proliferation",
                        "circadian behavior",
                        "positive regulation of peptidyl-tyrosine phosphorylation",
                        "negative regulation of helicase activity",
                        "RNA polymerase II preinitiation complex assembly",
                        "protein tetramerization",
                        "protein homotetramerization",
                        "negative regulation of telomerase activity",
                        "protein-containing complex assembly",
                        "positive regulation of thymocyte apoptotic process",
                        "positive regulation of cell cycle arrest",
                        "cellular response to hypoxia",
                        "cellular response to ionizing radiation",
                        "cellular response to gamma radiation",
                        "signal transduction by p53 class mediator",
                        "intrinsic apoptotic signaling pathway by p53 class mediator",
                        "cellular response to actinomycin D",
                        "positive regulation of release of cytochrome c from mitochondria",
                        "replicative senescence",
                        "oxidative stress-induced premature senescence",
                        "intrinsic apoptotic signaling pathway",
                        "oligodendrocyte apoptotic process",
                        "positive regulation of execution phase of apoptosis",
                        "positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway",
                        "regulation of signal transduction by p53 class mediator",
                        "regulation of cell cycle G2/M phase transition",
                        "positive regulation of pri-miRNA transcription by RNA polymerase II",
                        "positive regulation of production of miRNAs involved in gene silencing by miRNA",
                        "positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress",
                        "positive regulation of reactive oxygen species metabolic process",
                        "positive regulation of intrinsic apoptotic signaling pathway"
                    ],
                    "cellular_component": [
                        "nuclear chromatin",
                        "nucleus",
                        "nucleoplasm",
                        "transcription factor complex",
                        "transcription factor TFIID complex",
                        "nucleolus",
                        "cytoplasm",
                        "mitochondrion",
                        "mitochondrial matrix",
                        "endoplasmic reticulum",
                        "cytosol",
                        "nuclear matrix",
                        "nuclear body",
                        "PML body",
                        "protein-containing complex"
                    ]
                },
                "pathway_biocarta": [
                    "Apoptotic Signaling in Response to DNA Damage",
                    "ATM Signaling Pathway",
                    "BTG family proteins and cell cycle regulation",
                    "Cell Cycle: G1/S Check Point",
                    "Cell Cycle: G2/M Checkpoint",
                    "Chaperones modulate interferon Signaling Pathway",
                    "CTCF: First Multivalent Nuclear Factor",
                    "Double Stranded RNA Induced Gene Expression",
                    "Estrogen-responsive protein Efp controls cell cycle and breast tumors growth",
                    "Hypoxia and p53 in the Cardiovascular system",
                    "Overview of telomerase protein component gene hTert Transcriptional Regulation",
                    "p53 Signaling Pathway",
                    "RB Tumor Suppressor/Checkpoint Signaling in response to DNA damage",
                    "Regulation of cell cycle progression by Plk3",
                    "Regulation of transcriptional activity by PML",
                    "Role of BRCA1,  BRCA2 and ATR in Cancer Susceptibility",
                    "Telomeres, Telomerase, Cellular Aging, and  Immortality",
                    "Tumor Suppressor Arf Inhibits Ribosomal Biogenesis"
                ],
                "pathway_consensuspathdb": [
                    "Fluoropyrimidine Pathway, Pharmacodynamics",
                    "PI3K-Akt signaling pathway - Homo sapiens (human)",
                    "Non-small cell lung cancer - Homo sapiens (human)",
                    "Chronic myeloid leukemia - Homo sapiens (human)",
                    "Gastric cancer - Homo sapiens (human)",
                    "Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human)",
                    "Neurotrophin signaling pathway - Homo sapiens (human)",
                    "Central carbon metabolism in cancer - Homo sapiens (human)",
                    "Melanoma - Homo sapiens (human)",
                    "Doxorubicin Pathway (Cancer Cell), Pharmacodynamics",
                    "Bladder cancer - Homo sapiens (human)",
                    "Cell cycle - Homo sapiens (human)",
                    "p53 signaling pathway - Homo sapiens (human)",
                    "Small cell lung cancer - Homo sapiens (human)",
                    "Breast cancer - Homo sapiens (human)",
                    "Amyotrophic lateral sclerosis (ALS) - Homo sapiens (human)",
                    "Huntington,s disease - Homo sapiens (human)",
                    "HTLV-I infection - Homo sapiens (human)",
                    "Mitophagy - animal - Homo sapiens (human)",
                    "Basal cell carcinoma - Homo sapiens (human)",
                    "Hepatocellular carcinoma - Homo sapiens (human)",
                    "Glioma - Homo sapiens (human)",
                    "Thyroid hormone signaling pathway - Homo sapiens (human)",
                    "Prostate cancer - Homo sapiens (human)",
                    "Longevity regulating pathway - Homo sapiens (human)",
                    "Fluid shear stress and atherosclerosis - Homo sapiens (human)",
                    "MAPK signaling pathway - Homo sapiens (human)",
                    "Sphingolipid signaling pathway - Homo sapiens (human)",
                    "Proteoglycans in cancer - Homo sapiens (human)",
                    "MicroRNAs in cancer - Homo sapiens (human)",
                    "Pathways in cancer - Homo sapiens (human)",
                    "Viral carcinogenesis - Homo sapiens (human)",
                    "Transcriptional misregulation in cancer - Homo sapiens (human)",
                    "Hepatitis C - Homo sapiens (human)",
                    "Hepatitis B - Homo sapiens (human)",
                    "Measles - Homo sapiens (human)",
                    "Wnt signaling pathway - Homo sapiens (human)",
                    "Apoptosis - Homo sapiens (human)",
                    "Ferroptosis - Homo sapiens (human)",
                    "Cellular senescence - Homo sapiens (human)",
                    "Epstein-Barr virus infection - Homo sapiens (human)",
                    "Thyroid cancer - Homo sapiens (human)",
                    "Pancreatic cancer - Homo sapiens (human)",
                    "Endometrial cancer - Homo sapiens (human)",
                    "Colorectal cancer - Homo sapiens (human)",
                    "Human papillomavirus infection - Homo sapiens (human)",
                    "Herpes simplex infection - Homo sapiens (human)",
                    "Vincristine Action Pathway",
                    "Vinblastine Action Pathway",
                    "Vinorelbine Action Pathway",
                    "Vindesine Action Pathway",
                    "Cell Cycle",
                    "AMP-activated Protein Kinase (AMPK) Signaling",
                    "miRNA Regulation of DNA Damage Response",
                    "miRNAs involved in DNA damage response",
                    "Fluoropyrimidine Activity",
                    "TP53 Network",
                    "Folate Metabolism",
                    "Apoptosis Modulation and Signaling",
                    "Alzheimers Disease",
                    "Metastatic brain tumor",
                    "Signaling Pathways in Glioblastoma",
                    "Gastric Cancer Network 2",
                    "Oncostatin M Signaling Pathway",
                    "Spinal Cord Injury",
                    "Retinoblastoma (RB) in Cancer",
                    "Amyotrophic lateral sclerosis (ALS)",
                    "ATM Signaling Pathway",
                    "Apoptosis",
                    "Mammary gland development pathway - Involution (Stage 4 of 4)",
                    "Bladder Cancer",
                    "Copper homeostasis",
                    "Rac1-Pak1-p38-MMP-2 pathway",
                    "Photodynamic therapy-induced AP-1 survival signaling.",
                    "Photodynamic therapy-induced HIF-1 survival signaling",
                    "Apoptotic Signaling Pathway",
                    "Hepatitis C and Hepatocellular Carcinoma",
                    "Pathways Affected in Adenoid Cystic Carcinoma",
                    "TGF-beta Signaling Pathway",
                    "LncRNA-mediated mechanisms of therapeutic resistance",
                    "Regulation of TP53 Expression and Degradation",
                    "MAPK Signaling Pathway",
                    "miRNA regulation of prostate cancer signaling pathways",
                    "miRNA regulation of p53 pathway in prostate cancer",
                    "Wnt Signaling Pathway and Pluripotency",
                    "Interleukin-4 and 13 signaling",
                    "apoptotic signaling in response to dna damage",
                    "Endometrial cancer",
                    "PI3K-Akt Signaling Pathway",
                    "Caloric restriction and aging",
                    "Hereditary Leiomyomatosis and Renal Cell Carcinoma Pathway",
                    "Chromosomal and microsatellite instability in colorectal cancer",
                    "EMT transition in Colorectal Cancer",
                    "G1 to S cell cycle control",
                    "Senescence and Autophagy in Cancer",
                    "ErbB Signaling Pathway",
                    "DNA Damage Response",
                    "DNA Damage Response (only ATM dependent)",
                    "double stranded rna induced gene expression",
                    "DNA Repair",
                    "RUNX3 regulates CDKN1A transcription",
                    "Signal Transduction",
                    "Gene expression (Transcription)",
                    "DNA Double-Strand Break Repair",
                    "Transcriptional regulation by RUNX3",
                    "hypoxia and p53 in the cardiovascular system",
                    "btg family proteins and cell cycle regulation",
                    "role of brca1 brca2 and atr in cancer susceptibility",
                    "telomeres telomerase cellular aging and immortality",
                    "chaperones modulate interferon signaling pathway",
                    "tumor suppressor arf inhibits ribosomal biogenesis",
                    "estrogen responsive protein efp controls cell cycle and breast tumors growth",
                    "cell cycle: g1/s check point",
                    "overview of telomerase protein component gene htert transcriptional regulation",
                    "regulation of cell cycle progression by plk3",
                    "Generic Transcription Pathway",
                    "Oncogene Induced Senescence",
                    "Oxidative Stress Induced Senescence",
                    "Formation of Senescence-Associated Heterochromatin Foci (SAHF)",
                    "DNA Damage/Telomere Stress Induced Senescence",
                    "Cellular Senescence",
                    "SUMOylation of transcription factors",
                    "Factors involved in megakaryocyte development and platelet production",
                    "Cellular responses to stress",
                    "Post-translational protein modification",
                    "SUMO E3 ligases SUMOylate target proteins",
                    "Metabolism of proteins",
                    "TP53 Regulates Transcription of Cell Death Genes",
                    "RNA Polymerase II Transcription",
                    "PI5P Regulates TP53 Acetylation",
                    "Autodegradation of the E3 ubiquitin ligase COP1",
                    "Stabilization of p53",
                    "Transcriptional  activation of  cell cycle inhibitor p21",
                    "Transcriptional activation of p53 responsive genes",
                    "p53-Dependent G1 DNA Damage Response",
                    "p53-Dependent G1/S DNA damage checkpoint",
                    "G1/S DNA Damage Checkpoints",
                    "G2/M DNA damage checkpoint",
                    "Activation of NOXA and translocation to mitochondria",
                    "Activation of PUMA and translocation to mitochondria",
                    "Activation of BH3-only proteins",
                    "G2/M Checkpoints",
                    "Chaperonin-mediated protein folding",
                    "Intrinsic Pathway for Apoptosis",
                    "Cell Cycle Checkpoints",
                    "Oncostatin_M",
                    "Association of TriC/CCT with target proteins during biosynthesis",
                    "Apoptosis",
                    "Programmed Cell Death",
                    "Hypoxic and oxygen homeostasis regulation of HIF-1-alpha",
                    "Pre-NOTCH Transcription and Translation",
                    "Pre-NOTCH Expression and Processing",
                    "Signaling by NOTCH",
                    "TP53 Regulates Metabolic Genes",
                    "Aurora A signaling",
                    "SUMOylation",
                    "TP53 Regulates Transcription of Genes Involved in Cytochrome C Release",
                    "cell cycle: g2/m checkpoint",
                    "regulation of transcriptional activity by pml",
                    "TP53 Regulates Transcription of Caspase Activators and Caspases",
                    "Cellular responses to external stimuli",
                    "TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain",
                    "TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest",
                    "p53 signaling pathway",
                    "TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest",
                    "atm signaling pathway",
                    "TGF_beta_Receptor",
                    "TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain",
                    "TP53 Regulates Transcription of Cell Cycle Genes",
                    "EGFR1",
                    "TP53 Regulates Transcription of DNA Repair Genes",
                    "Regulation of TP53 Expression",
                    "Glucocorticoid receptor regulatory network",
                    "Regulation of PTEN gene transcription",
                    "The role of GTSE1 in G2/M progression after G2 checkpoint",
                    "Hemostasis",
                    "Ub-specific processing proteases",
                    "rb tumor suppressor/checkpoint signaling in response to dna damage",
                    "Regulation of TP53 Degradation",
                    "Regulation of TP53 Expression and Degradation",
                    "G2/M Transition",
                    "Mitotic G2-G2/M phases",
                    "PTEN Regulation",
                    "PIP3 activates AKT signaling",
                    "Ovarian tumor domain proteases",
                    "Protein folding",
                    "Deubiquitination",
                    "Regulation of TP53 Activity through Phosphorylation",
                    "Regulation of TP53 Activity through Association with Co-factors",
                    "Regulation of TP53 Activity through Methylation",
                    "Regulation of TP53 Activity through Acetylation",
                    "Regulation of TP53 Activity",
                    "Transcriptional Regulation by TP53",
                    "Direct p53 effectors",
                    "Cell Cycle",
                    "Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks",
                    "DNA Double Strand Break Response",
                    "Cell Cycle, Mitotic",
                    "Intracellular signaling by second messengers",
                    "Signaling mediated by p38-alpha and p38-beta",
                    "PLK3 signaling events",
                    "Validated targets of C-MYC transcriptional activation",
                    "AP-1 transcription factor network",
                    "BARD1 signaling events",
                    "p75(NTR)-mediated signaling",
                    "Signaling events mediated by HDAC Class III",
                    "p53 pathway",
                    "LKB1 signaling events",
                    "TP53 Regulates Transcription of Death Receptors and Ligands"
                ],
                "expression_gnf_atlas": [
                    "white blood cells",
                    "superior cervical ganglion",
                    "atrioventricular node",
                    "placenta",
                    "skeletal muscle"
                ],
                "expression_egenetics": [
                    "thymus",
                    "epididymis",
                    "tongue",
                    "skin",
                    "stomach",
                    "testis",
                    "lymphoreticular",
                    "amniotic fluid",
                    "larynx",
                    "kidney",
                    "uterus",
                    "pancreas",
                    "bile duct",
                    "head and neck",
                    "hypopharynx",
                    "mammary gland",
                    "skeletal muscle",
                    "mesenchyma",
                    "islets of Langerhans",
                    "cervix",
                    "vein",
                    "spleen",
                    "liver",
                    "cartilage",
                    "endometrium",
                    "bone",
                    "germinal center",
                    "brain",
                    "blood",
                    "bone marrow",
                    "lung",
                    "ovary",
                    "thyroid",
                    "lymph node",
                    "bladder",
                    "frontal lobe",
                    "colon",
                    "placenta",
                    "prostate",
                    "breast"
                ],
                "pathway_uniprot": null,
                "function_description": "Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression. In cooperation with mitochondrial PPIF is involved in activating oxidative stress-induced necrosis; the function is largely independent of transcription. Induces the transcription of long intergenic non-coding RNA p21 (lincRNA-p21) and lincRNA- Mkln1. LincRNA-p21 participates in TP53-dependent transcriptional repression leading to apoptosis and seems to have an effect on cell-cycle regulation. Implicated in Notch signaling cross-over. Prevents CDK7 kinase activity when associated to CAK complex in response to DNA damage, thus stopping cell cycle progression. Isoform 2 enhances the transactivation activity of isoform 1 from some but not all TP53-inducible promoters. Isoform 4 suppresses transactivation activity and impairs growth suppression mediated by isoform 1. Isoform 7 inhibits isoform 1-mediated apoptosis. Regulates the circadian clock by repressing CLOCK-ARNTL/BMAL1- mediated transcriptional activation of PER2 (PubMed:24051492). ",
                "disease_description": [
                    "TP53 is found in increased amounts in a wide variety of transformed cells. TP53 is frequently mutated or inactivated in about 60% of cancers. TP53 defects are found in Barrett metaplasia a condition in which the normally stratified squamous epithelium of the lower esophagus is replaced by a metaplastic columnar epithelium. The condition develops as a complication in approximately 10% of patients with chronic gastroesophageal reflux disease and predisposes to the development of esophageal adenocarcinoma.",
                    "=The disease is caused by mutations affecting the gene represented in this entry.",
                    "Li-Fraumeni syndrome (LFS) [MIM:151623]: An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. ",
                    "=The gene represented in this entry is involved in disease pathogenesis.",
                    "te=The disease is caused by mutations affecting the gene represented in this entry.",
                    "Papilloma of choroid plexus (CPP) [MIM:260500]: A benign tumor of neuroectodermal origin that generally occurs in childhood, but has also been reported in adults. Although generally found within the ventricular system, choroid plexus papillomas can arise ectopically in the brain parenchyma or disseminate throughout the neuraxis. Patients present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures. ",
                    "Adrenocortical carcinoma (ADCC) [MIM:202300]: A malignant neoplasm of the adrenal cortex and a rare childhood tumor. It occurs with increased frequency in patients with Beckwith- Wiedemann syndrome and Li-Fraumeni syndrome. ",
                    "Basal cell carcinoma 7 (BCC7) [MIM:614740]: A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. It is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter. "
                ],
                "gene_damage_prediction": {
                    "primary_immunodeficiency": {
                        "autosomalrecessive": "Medium",
                        "all": "Medium",
                        "autosomaldominant": "Medium"
                    },
                    "mendelian": {
                        "autosomalrecessive": "Medium",
                        "all": "Medium",
                        "autosomaldominant": "Medium"
                    },
                    "all": "Medium",
                    "cancer": {
                        "recessive": "Medium",
                        "all": "Medium",
                        "dominant": "Medium"
                    }
                }
            }
        ]
    },
    "exac_genes": {
        "version": "18-Sep-2018",
        "items": [
            {
                "prec": 0.08775030000000002,
                "pnull": 2.67186e-05,
                "pli": 0.912223,
                "syn_z": -0.042240200000000006,
                "mis_z": 1.37892,
                "cnv_score": -0.19665500000000002,
                "segdups": 0,
                "flag": false
            }
        ]
    },
    "publications": {
        "genes": [
            {
                "publicationsGeneTagsIndex": {
                    "Variant": {
                        "BRCA2:1813Dupa": [
                            34048828
                        ],
                        "HUWE1:G4310R": [
                            33948573
                        ],
                        "TP53:A159V": [
                            33633026
                        ],
                        "TP53:c.476C>T": [
                            33633026
                        ],
                        "EGFR:D1080N": [
                            33326033
                        ],
                        "BRCA2:p.L557*": [
                            33240400
                        ],
                        "BRCA2:c.1670T>A": [
                            33240400
                        ],
                        "TP53:R110H": [
                            33051313
                        ],
                        "TP53:P72H": [
                            33051313
                        ],
                        "BRCA2:K3326X": [
                            32994724
                        ],
                        "VHL:E52X": [
                            32994724
                        ],
                        "TP53:59Delc": [
                            32994724
                        ],
                        "TP53:V25D": [
                            32994724
                        ],
                        "TP53:R141H": [
                            32994724
                        ],
                        "TP53:Y88C": [
                            32994724
                        ],
                        "TP53:c.1000G>A": [
                            32675277
                        ],
                        "JAK2:V617F": [
                            34212373
                        ],
                        "TP53:G334R": [
                            32675277
                        ],
                        "MUTYH:c.1187G>A": [
                            32658311
                        ],
                        "MUTYH:1437_1439Delgga": [
                            32658311
                        ],
                        "MUTYH:c.884C>T": [
                            32658311
                        ],
                        "CHEK2:c.592+3A>T": [
                            32658311
                        ],
                        "JAK3:T1022I": [
                            32639993
                        ],
                        "Rs146752602": [
                            32637605
                        ],
                        "XAF1:E134*": [
                            32637605
                        ],
                        "EGFR:G719S": [
                            32556898
                        ],
                        "JAK1:L910P": [
                            32428506
                        ],
                        "JAK1:S703I": [
                            32428506
                        ],
                        "STAT3:Y640F": [
                            32428506
                        ],
                        "STAT3:D170Y": [
                            32428506
                        ],
                        "TP53:R249S": [
                            32428506
                        ],
                        "AR:T878S": [
                            32297439
                        ],
                        "AR:F877L": [
                            32297439
                        ],
                        "AR:H875Y": [
                            32297439
                        ],
                        "AR:T878A": [
                            32297439
                        ],
                        "STAT3:K348E": [
                            32428506
                        ],
                        "AR:L702H": [
                            32297439
                        ],
                        "P2RX7:A296D": [
                            31192134
                        ],
                        "BRAF:V600E": [
                            31519698,
                            31966927,
                            32118628,
                            32284020,
                            32913992
                        ],
                        "ERBB2:P702L": [
                            31685261
                        ],
                        "Rs3822214": [
                            33099473
                        ],
                        "KCNH4:E874K": [
                            31192134
                        ],
                        "Rs1870377": [
                            33099473
                        ],
                        "KCNC1:G16V": [
                            31192134
                        ],
                        "GRIN2B:A1096T": [
                            31192134
                        ],
                        "TP53:c.-117G>T": [
                            33051313
                        ],
                        "CACNA1S:E1581K": [
                            31192134
                        ],
                        "TP53:I195T": [
                            32293356
                        ],
                        "VRK1:V236M": [
                            31527692
                        ],
                        "TP53:R158C": [
                            33051313
                        ],
                        "RB1:c.1498+1G>T": [
                            31192134
                        ],
                        "TP53:F134L": [
                            33051313
                        ],
                        "TP53:V157L": [
                            31192134
                        ],
                        "KRAS:G12C": [
                            31186738
                        ],
                        "MUTYH:A373V": [
                            31273614
                        ],
                        "EGFR:T790M": [
                            31186738,
                            31956415,
                            32221744
                        ],
                        "TP53:*": [
                            31081129
                        ],
                        "TP53:R81X": [
                            32994724
                        ],
                        "TP53:R175H": [
                            15977174,
                            22052707,
                            31296311,
                            31500291
                        ],
                        "TP53:P278R": [
                            33051313
                        ],
                        "CTNND1:S713C": [
                            31192134
                        ],
                        "VRK1:R358X": [
                            31527692
                        ],
                        "TP53:327Delc": [
                            32994724
                        ],
                        "TP53:P47S": [
                            31980600
                        ],
                        "KIF1B:c.2787-2A>C": [
                            33397043
                        ],
                        "TP53:R248W": [
                            31296311,
                            32293356
                        ],
                        "TP53:c.566C>T": [
                            23667851
                        ],
                        "CHEK2:c.707T>C": [
                            31206626
                        ],
                        "PALB2:2167_2168Del": [
                            31206626
                        ],
                        "KDR:Q472H": [
                            33099473
                        ],
                        "KCNK9:R131S": [
                            31192134
                        ],
                        "PIK3CA:Q546K": [
                            31269413
                        ],
                        "TP53:c.560-7_560-2Delctcttainst": [
                            32116712
                        ],
                        "TP53:R202C": [
                            22170717
                        ],
                        "TP53:L348S": [
                            33051313
                        ],
                        "CHEK2:R180C": [
                            32041497
                        ],
                        "MED17:G556V": [
                            31192134
                        ],
                        "TP53:Y220S": [
                            15977174
                        ],
                        "KRAS:G12D": [
                            31269413
                        ],
                        "SDHA:G260R": [
                            33397043
                        ],
                        "TP53:G245S": [
                            31296311
                        ],
                        "TP53:R283C": [
                            33051313
                        ],
                        "CHEK2:Y139X": [
                            32041497
                        ],
                        "NSD1:P2212A": [
                            31192134
                        ],
                        "VRK1:L195V": [
                            31527692
                        ],
                        "TP53:c.659A>C": [
                            15977174
                        ],
                        "SDHA:c.778G>A": [
                            33397043
                        ],
                        "TP53:G245D": [
                            22052707,
                            31296311
                        ],
                        "TP53:S203T": [
                            31817278
                        ],
                        "CDC25C:V41A": [
                            33111630
                        ],
                        "SCN8A:R558H": [
                            31192134
                        ],
                        "TP53:D352Y": [
                            33051313
                        ],
                        "DPYD:Q814K": [
                            31192134
                        ],
                        "CHEK2:H371Y": [
                            32041497
                        ],
                        "TP53:c.*1175A>C": [
                            33051313
                        ],
                        "CACNG1:P71T": [
                            31192134
                        ],
                        "TP53:E298X": [
                            32293356
                        ],
                        "VRK1:R321C": [
                            31527692
                        ],
                        "TP53:E285V": [
                            18762572
                        ],
                        "TP53:E204E": [
                            22052707
                        ],
                        "TP53:P191R": [
                            33051313
                        ],
                        "MED23:L1127P": [
                            31192134
                        ],
                        "VRK1:R133C": [
                            31527692
                        ],
                        "CACNG8:G404W": [
                            31192134
                        ],
                        "TP53:P72R": [
                            22052707
                        ],
                        "AR:W742C": [
                            32297439
                        ],
                        "TP53:G105C": [
                            15381368
                        ],
                        "THOC1:L183V": [
                            32776944
                        ],
                        "Rs78378222": [
                            21946351
                        ],
                        "Rs483353122": [
                            31273614
                        ],
                        "TP53:R337H": [
                            22170717,
                            31748977,
                            31778928
                        ],
                        "AR:W742L": [
                            32297439
                        ],
                        "TP53:R248Q": [
                            15381368,
                            31296311
                        ],
                        "THOC1:c.547C>G": [
                            32776944
                        ],
                        "VRK1:c.637T > C": [
                            32365420
                        ],
                        "Rs35352891": [
                            31273614
                        ],
                        "TP53:I332M": [
                            22170717
                        ],
                        "IVL:c.131G>A": [
                            32240666
                        ],
                        "TP53:R110C": [
                            31081129
                        ],
                        "TP53:G105D": [
                            33051313
                        ],
                        "KRAS:G12V": [
                            31269413
                        ],
                        "VRK1:G135R": [
                            31527692
                        ],
                        "HRAS:G12D": [
                            32293356
                        ],
                        "TP53:c.1000G>C": [
                            32675277
                        ],
                        "PIK3CA:E542K": [
                            31269413
                        ],
                        "PIK3CA:H1047R": [
                            31269413,
                            32293356
                        ],
                        "TP53:A189V": [
                            23667851
                        ],
                        "TP53:R273C": [
                            31296311
                        ],
                        "TP53:R273H": [
                            31296311,
                            31500291,
                            32293356
                        ],
                        "TP53:R282W": [
                            31296311
                        ],
                        "MED12:c.141C>T": [
                            32240666
                        ],
                        "TP53:H193R": [
                            32293356
                        ],
                        "VRK1:H119R": [
                            31527692
                        ],
                        "CHEK2:I157T": [
                            31409080
                        ],
                        "TP53:c.1010G>A": [
                            31778928
                        ],
                        "XAF1:*": [
                            32637605
                        ],
                        "Rs2043556": [
                            31778928
                        ],
                        "ERBB2:L869R": [
                            31867841
                        ],
                        "MED12:p.N47=": [
                            32240666
                        ],
                        "MLH1:G133X": [
                            32167968
                        ],
                        "VRK1:Y213H": [
                            32365420
                        ],
                        "MUTYH:c.1118C>T": [
                            31273614
                        ],
                        "EGFR:L858R": [
                            32221744
                        ],
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                            33637876
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                        "metastatic castrate resistant prostate cancer": [
                            26695660
                        ],
                        "cancer affected": [
                            21056402,
                            31481248
                        ],
                        "autoinflammation": [
                            32048120
                        ],
                        "necrotic": [
                            31228945
                        ],
                        "acinic cell carcinoma": [
                            31361912
                        ],
                        "dermatological disease": [
                            24072100
                        ],
                        "relapsed/refractory AML": [
                            26459177
                        ],
                        "hereditary breast and ovarian cancer": [
                            32761968,
                            33326660,
                            34204722
                        ],
                        "LFS-spectrum cancer": [
                            32675277
                        ],
                        "ENE": [
                            31541339
                        ],
                        "neurocognitive impairment": [
                            21056402
                        ],
                        "STAD": [
                            32034058
                        ],
                        "squamous cell carcinoma of the larynx": [
                            11325447
                        ],
                        "LGD-H": [
                            31781186
                        ],
                        "gastric and breast carcinoma": [
                            8825920
                        ],
                        "osteosarcoma": [
                            11498785,
                            12085209,
                            21837677,
                            23409989,
                            26014290,
                            28338660
                        ],
                        "follicular cell derived thyroid cancer": [
                            32265839
                        ],
                        "syndrome": [
                            22170717,
                            28338660,
                            31072588,
                            31321604,
                            31778928
                        ],
                        "spiradenocarcinoma": [
                            31101826
                        ],
                        "Juberg-Marsidi syndrome": [
                            33948573
                        ],
                        "strong family history of colon cancer": [
                            23015295
                        ],
                        "KRAS-mutant lung cancer": [
                            22425996
                        ],
                        "MDS": [
                            21519010,
                            23297687,
                            24761810,
                            24836762,
                            25952993,
                            27601546,
                            27959731,
                            27967292,
                            31309983
                        ],
                        "follicular lymphoma": [
                            33311649
                        ],
                        "high grade dysplasia": [
                            31781186
                        ],
                        "myeloma": [
                            17215851
                        ],
                        "acute leukemia": [
                            11219776
                        ],
                        "strong family history of cancer": [
                            1679237
                        ],
                        "Li-Fraumeni syndrome": [
                            1565143,
                            1565144,
                            1591732,
                            1737852,
                            1933902,
                            2259385,
                            7887414,
                            8118819,
                            8825920,
                            9242456,
                            10484981,
                            11481490,
                            11498785,
                            11600572,
                            14583457,
                            15381368,
                            15695383,
                            15977174,
                            18762572,
                            19556618,
                            20182602,
                            21601526,
                            21837677,
                            21946351,
                            21990040,
                            22170717,
                            22551548,
                            22672556,
                            22878818,
                            22939227,
                            23015295,
                            23355100,
                            23667851,
                            26014290,
                            31081129,
                            31105275,
                            31296311,
                            31321604,
                            31748977,
                            32998877,
                            33608379,
                            33633026
                        ],
                        "DKD": [
                            21714678
                        ],
                        "cervical NET": [
                            31228945
                        ],
                        "malignant": [
                            31412428,
                            31781186,
                            33633026
                        ],
                        "AJCC": [
                            31854063
                        ],
                        "aneuploidy": [
                            23334668
                        ],
                        "colon, breast, and lung cancer": [
                            1565144
                        ],
                        "adrenal carcinogenesis": [
                            15922892
                        ],
                        "cirrhosis": [
                            32428506
                        ],
                        "leukemia": [
                            1737852,
                            3409256,
                            8118819,
                            8825920,
                            11219776,
                            11498785,
                            21483000,
                            23334668,
                            24072100,
                            24487413,
                            26459177,
                            26899019,
                            28600339,
                            32188030
                        ],
                        "giant cell glioblastoma": [
                            32642724
                        ],
                        "Li-Fraumeni cancer syndrome": [
                            1679237
                        ],
                        "IEI": [
                            32048120
                        ],
                        "neuroendocrine tumor of the cervix": [
                            31228945
                        ],
                        "XLID": [
                            33948573
                        ],
                        "sporadic": [
                            1565143
                        ],
                        "glioma": [
                            8825920,
                            21946351,
                            31290679,
                            31842352,
                            31908895,
                            32642724,
                            33099473
                        ],
                        "neoplasia": [
                            31781186
                        ],
                        "BC": [
                            31206626,
                            31273614,
                            31300551,
                            31409080,
                            31867841,
                            32000721,
                            32658311,
                            33326660,
                            33606809,
                            34204722
                        ],
                        "head and neck cancer": [
                            11325447,
                            22090360,
                            32293356
                        ],
                        "sarcoma": [
                            1565143,
                            1565144,
                            1978757,
                            3409256,
                            7887414,
                            8825920,
                            11219776,
                            11498785,
                            12610779,
                            21837677,
                            22672556,
                            23894400,
                            26646755,
                            27463065,
                            31105275,
                            32290854
                        ],
                        "Pleuropulmonary blastoma": [
                            33637876
                        ],
                        "suggestive family history": [
                            22878818
                        ],
                        "T-cell ALL": [
                            21747090
                        ],
                        "Klinefelter syndrome": [
                            31340200
                        ],
                        "family history of cancer": [
                            1565143,
                            32014051
                        ],
                        "PPB": [
                            33637876
                        ],
                        "CPC": [
                            18762572,
                            21990040
                        ],
                        "esophageal cancer": [
                            23515910
                        ],
                        "CLL": [
                            14726385,
                            18689542,
                            20697090,
                            21483000,
                            24652989,
                            24943832,
                            26459177,
                            26837699,
                            31054420,
                            31919090,
                            32720348,
                            33190294
                        ],
                        "MACA": [
                            31491041
                        ],
                        "melanocytic neoplasm": [
                            32118628
                        ],
                        "glioblastoma": [
                            19171829,
                            31290679,
                            32002804,
                            32014051,
                            33099473
                        ],
                        "rare tumor": [
                            18762572
                        ],
                        "allergy": [
                            32048120
                        ],
                        "cervical neuroendocrine tumor": [
                            31228945
                        ],
                        "MSI-H": [
                            32220973
                        ],
                        "NO known family history of cancer": [
                            1565143
                        ],
                        "sweat gland dysfunction": [
                            21714678
                        ],
                        "CNADs": [
                            31781186
                        ],
                        "spinal muscular atrophy": [
                            31527692
                        ],
                        "LFL": [
                            8718514,
                            9242456,
                            14583457,
                            23667851,
                            23894400,
                            31321604,
                            31748977
                        ],
                        "invasive head and neck squamous cell carcinoma": [
                            8901856
                        ],
                        "confusion": [
                            31321604
                        ],
                        "left parietal tumor": [
                            31966927
                        ],
                        "stroke": [
                            22726440
                        ],
                        "BCC": [
                            32409749
                        ],
                        "gastric cancer": [
                            14514923,
                            24740294,
                            31315834,
                            31541339,
                            31949278,
                            32034058,
                            32226496
                        ],
                        "seminoma": [
                            10484981
                        ],
                        "distal motor neuropathy": [
                            32365420
                        ],
                        "dysglycemia": [
                            21714678
                        ],
                        "intestinal cancer": [
                            32058953
                        ],
                        "carcinoma": [
                            11219776,
                            11498785,
                            11595686,
                            12524418,
                            15741269,
                            21467160,
                            31189995,
                            31192134,
                            31269413,
                            31400926,
                            31405179,
                            31412428,
                            31541339,
                            31723240,
                            31748977,
                            31781186,
                            31892193,
                            32019284,
                            32167968,
                            32232506,
                            32284020,
                            32290854,
                            32294063,
                            32326836,
                            32578376,
                            33021522,
                            33240400,
                            33323389,
                            33608379
                        ],
                        "marginal zone lymphoma": [
                            33311649
                        ],
                        "neutropenia": [
                            32584426,
                            32833294
                        ],
                        "adrenocortical cancer": [
                            15922892,
                            22170717
                        ],
                        "genetic disorder": [
                            30146126
                        ],
                        "cytoarchitectural atypia": [
                            31189995
                        ],
                        "CRs": [
                            34048828
                        ],
                        "ovarian cancer": [
                            11595686,
                            31748433,
                            32106643,
                            32611648,
                            34048828
                        ],
                        "myopathy": [
                            32413282
                        ],
                        "gliosarcoma": [
                            32014051
                        ],
                        "Li-Fraumeni-like syndrome": [
                            14583457,
                            21837677,
                            23409989,
                            23667851
                        ],
                        "midline glioma": [
                            31348837
                        ],
                        "Li-Fraumeni syndrome associated adrenal tumor": [
                            11481490
                        ],
                        "skin cancer": [
                            10612830
                        ],
                        "panNET": [
                            31072588
                        ],
                        "myeloid malignancies": [
                            23297687
                        ],
                        "adenoma": [
                            12524418,
                            15741269,
                            21946351,
                            31189995,
                            31781186
                        ],
                        "BPDCN": [
                            24072100
                        ],
                        "oral squamous cell carcinoma": [
                            12509970
                        ],
                        "TML": [
                            32642724
                        ],
                        "breast carcinoma": [
                            3409256,
                            7887414,
                            26014290
                        ],
                        "retinoblastoma": [
                            1679237,
                            32240666
                        ],
                        "promyelocytic leukemia": [
                            12810724
                        ],
                        "myelodysplastic syndrome": [
                            21519010,
                            23297687,
                            24836762,
                            25952993,
                            27601546,
                            27959731,
                            27967292,
                            31309983,
                            31804030
                        ],
                        "liver cancer": [
                            10612830,
                            32428506
                        ],
                        "cancer syndrome": [
                            15381368,
                            15695383
                        ],
                        "hereditary breast cancer": [
                            31081129,
                            31409080,
                            33606809
                        ],
                        "ECC": [
                            31269413
                        ],
                        "acute promyelocytic leukemia": [
                            11025664,
                            26459177
                        ],
                        "affected": [
                            11219776
                        ],
                        "upper urinary tract urothelial carcinoma": [
                            32167968
                        ],
                        "chromosomal abnormality": [
                            21483000
                        ],
                        "MIA": [
                            31747302
                        ],
                        "lymphoma": [
                            11219776,
                            24619868,
                            32173361,
                            33311649
                        ],
                        "spiradenoma": [
                            31101826
                        ],
                        "squamous cell carcinoma of the head and neck": [
                            11325447
                        ],
                        "smFBC": [
                            31340200
                        ],
                        "exCCA": [
                            32256810
                        ],
                        "HrBC": [
                            31081129
                        ],
                        "neuroblastoma": [
                            11498785
                        ],
                        "GBM": [
                            31290679,
                            31966927,
                            32002804,
                            32642724,
                            33099473
                        ],
                        "neurofibromatosis type 1": [
                            31206626
                        ],
                        "high penetrance cancer syndrome": [
                            32675277
                        ],
                        "DD": [
                            21056402
                        ],
                        "MVD": [
                            33099473
                        ],
                        "anemia": [
                            23690417,
                            32611648
                        ],
                        "solid tumor": [
                            31092729,
                            32226496,
                            32945487
                        ],
                        "SMA": [
                            31527692
                        ],
                        "tumor": [
                            1349175,
                            1565143,
                            1565144,
                            1679237,
                            1978757,
                            2259385,
                            3409256,
                            8118819,
                            8718514,
                            8825920,
                            8901856,
                            10484981,
                            10612830,
                            10786679,
                            11025664,
                            11219776,
                            11325447,
                            11481490,
                            11595686,
                            11600572,
                            12509970,
                            12524418,
                            12619118,
                            14514923,
                            14583457,
                            15340061,
                            15381368,
                            15695383,
                            15741269,
                            15922892,
                            15977174,
                            16131611,
                            17671205,
                            18762572,
                            19171829,
                            19556538,
                            19941080,
                            21525573,
                            21601526,
                            21837677,
                            21946351,
                            21990040,
                            22090360,
                            22170717,
                            22425996,
                            22551548,
                            22672556,
                            22698404,
                            22878818,
                            23015295,
                            23355100,
                            23409989,
                            23894400,
                            24072100,
                            24761810,
                            25730903,
                            26014290,
                            26459177,
                            26618142,
                            26646755,
                            26695660,
                            26899019,
                            27463065,
                            27601546,
                            28338660,
                            28453411,
                            31072588,
                            31072725,
                            31090900,
                            31092729,
                            31101826,
                            31128451,
                            31186738,
                            31192134,
                            31201607,
                            31207989,
                            31228945,
                            31231124,
                            31269413,
                            31315834,
                            31322272,
                            31348837,
                            31361912,
                            31365877,
                            31400926,
                            31405179,
                            31409080,
                            31412428,
                            31481248,
                            31491041,
                            31500291,
                            31519698,
                            31541339,
                            31573955,
                            31612912,
                            31619231,
                            31621921,
                            31659152,
                            31685261,
                            31723240,
                            31747302,
                            31748433,
                            31754995,
                            31774495,
                            31778928,
                            31795192,
                            31798692,
                            31817278,
                            31842352,
                            31851786,
                            31854063,
                            31855307,
                            31867841,
                            31874108,
                            31892193,
                            31892709,
                            31949278,
                            31966927,
                            32000721,
                            32002804,
                            32012118,
                            32014051,
                            32034058,
                            32041497,
                            32058953,
                            32077636,
                            32079540,
                            32106643,
                            32108164,
                            32116712,
                            32118628,
                            32123303,
                            32173361,
                            32188030,
                            32188081,
                            32220973,
                            32221744,
                            32226301,
                            32226496,
                            32232506,
                            32234759,
                            32256810,
                            32265839,
                            32284020,
                            32290854,
                            32293356,
                            32294063,
                            32295706,
                            32297439,
                            32299819,
                            32305056,
                            32309377,
                            32310940,
                            32369821,
                            32409749,
                            32428506,
                            32522823,
                            32554602,
                            32556898,
                            32572156,
                            32578376,
                            32611648,
                            32642724,
                            32655895,
                            32675277,
                            32699558,
                            32707446,
                            32726432,
                            32802958,
                            32807235,
                            32913992,
                            32945487,
                            32965059,
                            33021522,
                            33099473,
                            33111630,
                            33240400,
                            33311649,
                            33323389,
                            33326660,
                            33360044,
                            33397043,
                            33503190,
                            33568653,
                            33606809,
                            33608379,
                            33637876,
                            33830941,
                            33884105,
                            33924134,
                            34048828,
                            34200790
                        ],
                        "inherited breast cancer": [
                            31871109
                        ],
                        "Wilm tumor": [
                            21525573
                        ],
                        "adrenocortical tumor": [
                            11600572,
                            15741269,
                            32304390,
                            32675277
                        ],
                        "USs": [
                            33503190
                        ],
                        "PTC": [
                            32041497,
                            33884105
                        ],
                        "chronic myeloid malignancies": [
                            24761810
                        ],
                        "stage IV lung adenocarcinoma": [
                            31956415
                        ],
                        "choroid plexus papilloma": [
                            12085209,
                            21990040,
                            33608379
                        ],
                        "T-AML": [
                            25952993
                        ],
                        "neuromotor developmental syndrome": [
                            31527692
                        ],
                        "ESCC": [
                            19941080,
                            23515910,
                            31851786
                        ],
                        "dominantly inherited Li-Fraumeni syndrome": [
                            11219776
                        ],
                        "breast and/or ovarian cancer": [
                            33326660
                        ],
                        "metastatic rib lesion": [
                            26695660
                        ],
                        "bladder adenocarcinoma": [
                            32167968
                        ],
                        "SCC": [
                            12509970,
                            32284020
                        ],
                        "uLMS": [
                            32299819,
                            33503190
                        ],
                        "HCC": [
                            31086582,
                            31322272,
                            31405179,
                            32226301,
                            32309377,
                            32428506,
                            32674319,
                            33111630
                        ],
                        "normal": [
                            14514923,
                            15340061,
                            15922892,
                            16131611,
                            31188922,
                            31207989,
                            31340200,
                            31723240,
                            32058953,
                            32173361,
                            32226496,
                            32299819,
                            32310940,
                            32720348,
                            33111630,
                            33633026,
                            34200790
                        ],
                        "endocrine tumor": [
                            33326033
                        ],
                        "gcGBM": [
                            32642724
                        ],
                        "intracranial malignancy": [
                            1679237
                        ],
                        "gynecological cancer": [
                            31412428,
                            31748433
                        ],
                        "inflammatory breast cancer": [
                            31854063
                        ],
                        "cancer": [
                            1565143,
                            1565144,
                            1679237,
                            1933902,
                            1978757,
                            2259385,
                            3409256,
                            8118819,
                            8718514,
                            8901856,
                            10484981,
                            10612830,
                            11219776,
                            11481490,
                            11498785,
                            11600572,
                            12610779,
                            15340061,
                            15381368,
                            15977174,
                            16131611,
                            17671205,
                            19171829,
                            19556538,
                            19556618,
                            19941080,
                            20182602,
                            21056402,
                            21601526,
                            21837677,
                            21946351,
                            21990040,
                            22170717,
                            22425996,
                            22551548,
                            22672556,
                            22698404,
                            22878818,
                            22939227,
                            23015295,
                            23175693,
                            23355100,
                            23667851,
                            23894400,
                            26014290,
                            26618142,
                            26695660,
                            27050224,
                            27463065,
                            27881370,
                            28338660,
                            30146126,
                            31081129,
                            31090900,
                            31101826,
                            31105275,
                            31128451,
                            31188922,
                            31206626,
                            31207989,
                            31296311,
                            31300551,
                            31321604,
                            31322272,
                            31365877,
                            31400926,
                            31405179,
                            31409080,
                            31412428,
                            31481248,
                            31500291,
                            31573955,
                            31659152,
                            31685261,
                            31747302,
                            31748433,
                            31748977,
                            31754995,
                            31778928,
                            31854063,
                            31871109,
                            31980600,
                            32000721,
                            32034058,
                            32058953,
                            32077636,
                            32079540,
                            32106643,
                            32108164,
                            32167968,
                            32173361,
                            32188081,
                            32226301,
                            32265839,
                            32293356,
                            32310940,
                            32409749,
                            32428506,
                            32637605,
                            32639993,
                            32655895,
                            32658311,
                            32675277,
                            32726432,
                            32761968,
                            32965059,
                            32994724,
                            32998877,
                            33051313,
                            33309985,
                            33326033,
                            33326660,
                            33360044,
                            33503190,
                            33568653,
                            33606809,
                            33850299,
                            33924134,
                            34200790
                        ],
                        "metastasis": [
                            32299819
                        ],
                        "chronic myelogenous leukemia": [
                            26459177
                        ],
                        "lung lesion": [
                            31186738
                        ],
                        "hematological malignancies": [
                            24761810,
                            33533142,
                            33850299
                        ],
                        "aggressive leukemia": [
                            24761810
                        ],
                        "ICs": [
                            34204722
                        ],
                        "JMML": [
                            24761810
                        ],
                        "MC-HM": [
                            33850299
                        ],
                        "hepatocellular adenoma": [
                            31189995
                        ],
                        "Mn": [
                            33533142
                        ],
                        "M-CLL": [
                            24943832
                        ],
                        "signet ring cell colorectal carcinoma": [
                            31400926
                        ],
                        "rectal cancer": [
                            24957073
                        ],
                        "uterine dedifferentiated endometrioid adenocarcinoma": [
                            32167968
                        ],
                        "myeloid neoplasm": [
                            25952993,
                            27601546,
                            31309983,
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                        "IVL": [
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                        "SCA": [
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                        "malignant neoplasm": [
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                        "stage I through III non-small cell lung cancer": [
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                        "non-small cell lung cancer": [
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                            28453411,
                            31186738,
                            31659111,
                            31798692,
                            31817278,
                            32077636,
                            32221744,
                            32268332,
                            32522823,
                            32913992,
                            33360044
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                        "strong family history": [
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                        "spinal muscular atrophy syndrome": [
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                        "lesion": [
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                            31175866,
                            31412428,
                            31621921,
                            31723240,
                            31892193,
                            32639993,
                            32664330
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                        "myelofibrosis": [
                            22052707
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                        "familial leukemia": [
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                        "ptosis": [
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                        "reperfusion injury": [
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                        "inherited neuromuscular disorder": [
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                        "hormone receptor negative": [
                            31871109
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                        "phyllode tumor": [
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                        "ribosomopathies": [
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                        "erythroid hypoplasia": [
                            27967292
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                        "hematologic malignancy": [
                            28297620
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                        "tumorigenesis": [
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                            31175866
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                        "BRCA-deficiency": [
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                        "NSCLC": [
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                            31619231,
                            31659111,
                            31798692,
                            31817278,
                            32077636,
                            32221744,
                            32268332,
                            32522823,
                            32913992,
                            33360044
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                        "microsatellite instability low": [
                            31400926
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                        "fibrolamellar hepatocellular carcinoma": [
                            31322272
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                        "clear cell carcinoma": [
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                        "IBMFS": [
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                        "CCC": [
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                        "bone marrow failure": [
                            30146126
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                        "low-grade serous carcinoma": [
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                        "Diamond-Blackfan anemia": [
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                        "Lynch syndrome associated tumor": [
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                        "DBA": [
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                        "high grade cytological atypia": [
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                        "CRC": [
                            31400926,
                            32000721,
                            32058953,
                            32658311,
                            32998877,
                            33309985
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                        "hypogammaglobulinemia": [
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                        "low- and high grade spiradenocarcinoma": [
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                        "NSF": [
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                        "growth retardation": [
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                        "microcephaly": [
                            30146126,
                            31527692
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                        "polycythemia": [
                            29296692
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                        "Li-Fraumeni cancer predisposition syndrome": [
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                        "Extramammary Paget disease": [
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                        "polycythemia vera": [
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                        "EMPD": [
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                        "Paget disease": [
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                        "well differentiated neuroendocrine tumor": [
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                        "dysplasia": [
                            31175866
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                        "squamous cell carcinoma of the esophagus": [
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                        "NET": [
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                        "ULM": [
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                        "gastric adenocarcinoma": [
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                        "liposarcoma": [
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                        "CMML": [
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                            24836762
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                        "NEC": [
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                        "ES": [
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                        "pheochromocytoma": [
                            33397043
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                        "malignancy of the bladder": [
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                        "endometrial carcinoma": [
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                        "Cholangiocarcinoma": [
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                        "bone neoplasm": [
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                        "Ewing'S sarcoma": [
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                        "autoimmunity": [
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                        "cylindroma": [
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                        "uterine sarcoma": [
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                            33503190
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                        "hepatocellular carcinoma": [
                            31086582,
                            31189995,
                            31322272,
                            31405179,
                            32226301,
                            32309377,
                            32428506,
                            33111630
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                        "myeloproliferative neoplasm": [
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                        "hematolymphoid neoplasia": [
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                        "familial breast cancer": [
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                        "skin adnexal tumor": [
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                        "intraductal papillary mucinous neoplasm": [
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                            31723240
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                        "childhood ACC": [
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                        "neoplastic": [
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                        "anaplastic thyroid carcinoma": [
                            31621921,
                            32284020
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                        "pancreatic neoplasm": [
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                        "ATC": [
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                            32284020
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                        "epidermal growth factor receptor (EGFR)-positive non-small cell lung cancer": [
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                        "SCLC": [
                            31186738,
                            31612912,
                            32584426
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                        "soft tissue malignancy": [
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                        "lung adenocarcinoma": [
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                            31619231,
                            31892709,
                            31921619,
                            32077636,
                            32413741,
                            32556898
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                        "small cell lung cancer": [
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                            31612912,
                            32584426,
                            32802958
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                        "hepatocellular neoplasm": [
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                        "multiple cancer": [
                            32675277
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                        "hepatocellular tumor": [
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                        "paraganglioma": [
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                        "autosomal dominant disorder": [
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                            32167968
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                        "bladder tumor": [
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                        "malignant carcinoma": [
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                        "MM": [
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                        "hematuria": [
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                        "tumor normal": [
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                            32807235
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                        "MNGP": [
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                        "DDLPS": [
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                        "ataxia telangiectasia": [
                            31206626,
                            32726432
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                        "NF1": [
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                        "neurodevelopmental X-linked intellectual disabilities": [
                            33948573
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                        "mCRPC": [
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                        "hematologic malignancies": [
                            12610779,
                            26459177,
                            27881370,
                            28297620,
                            28600339
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                        "colon cancer": [
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                        "healthy": [
                            31207989,
                            32000721
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                        "hereditary syndrome": [
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                        "neuroendocrine tumor": [
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                        "IPNB": [
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                        "pancreatic intraductal papillary mucinous neoplasm": [
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                        "differentiated thyroid cancer": [
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                        "oncocytic": [
                            31231124
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                        "CCA": [
                            32256810
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                        "intraductal papillary neoplasm": [
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                        "endometrial clear cell carcinoma": [
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                        "ovarian clear cell carcinoma": [
                            32655895
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                        "mBC": [
                            31340200,
                            33323389,
                            33924134
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                        "urothelial carcinoma": [
                            31192134
                        ],
                        "ECCC": [
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                        "positive for α-methylacyl-coenzyme A racemase": [
                            31269413
                        ],
                        "low-grade glioma": [
                            31855307,
                            31908895
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                        "carcinoma of the endometrium": [
                            31269413
                        ],
                        "glioblastoma multiforme": [
                            31290679,
                            31966927
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                        "hematolymphoid neoplasm": [
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                        ],
                        "anxiety": [
                            31321604
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                        "neoplasm": [
                            1933902,
                            1978757,
                            2259385,
                            3409256,
                            6016796,
                            11219776,
                            21601526,
                            31072588,
                            31231124,
                            31309983,
                            31491041,
                            32240666,
                            33311649,
                            33533142,
                            33608379
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                        "hematolymphoid malignancy": [
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                        "VUS": [
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                        "breast malignancies": [
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                        "family history": [
                            31871109
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                        "osteogenic sarcoma": [
                            1349175
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                        "ER-positive": [
                            31340200
                        ],
                        "sporadic sarcoma": [
                            1565143
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                        "progesterone receptor (PR)-positive": [
                            31340200
                        ],
                        "B lymphoblastic leukemia": [
                            24619868
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                        "colorectal cancer": [
                            31400926,
                            31659152,
                            31795192,
                            32000721,
                            32058953,
                            32294063,
                            32658311,
                            32998877,
                            33309985
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                        "mPDAC": [
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                        "SRC": [
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                        "AIS": [
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                        "low-grade dysplasia": [
                            31175866,
                            31781186
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                        "MC": [
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                        "TSC2 deficient": [
                            31315834
                        ],
                        "AML": [
                            24487413,
                            24836762,
                            25952993,
                            26459177,
                            26771088,
                            27288520,
                            27463065,
                            27601546,
                            27959731,
                            27967292,
                            32188030,
                            32833294,
                            32945487
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                        "CON": [
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                        ],
                        "SRCC": [
                            31400926
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                        "PGVs": [
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                        "leiomyomatosis": [
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                        "malignancies": [
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                            15381368,
                            21525573,
                            22672556,
                            23667851,
                            31748977,
                            32173361
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                        "endometrial cancer": [
                            31412428,
                            32294063
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                        "HGD": [
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                        "hyperplastic": [
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                        "oral cancer": [
                            12509970
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                        "non-cancerous": [
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                        "MSS": [
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                        "MCL": [
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                            32173361,
                            32239765,
                            32277542
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                        "TFT": [
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                        "CS": [
                            32188081
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                        "intracranial ependymoma": [
                            1679237
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                        "B-cell lymphoma": [
                            31433838
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                        "inherited disorder": [
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                        "HAMN": [
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                        "appendiceal mucinous neoplasm": [
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                        "LAMN": [
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                    },
                    "Gene": {
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                        "TBX3": [
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                        "TMPRSS2": [
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                        "H3F3C": [
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                        "MYB": [
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                        "MYCN": [
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                        "CDK4": [
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                        "PDE4DIP": [
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                        "NFU1": [
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                        "KIF1B": [
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                        "JNK": [
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                        "Bcl-2": [
                            33360044
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                        "CASP8": [
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                        "FAN1": [
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                        "IGF2": [
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                        "B2M": [
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                        "TNFAIP3": [
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                        "TNFRSF14": [
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                        "IL7R": [
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                        "XPO1": [
                            33190294
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                        "NF2": [
                            33173047,
                            33568653
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                        "CDC25C": [
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                        "CK1": [
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                        "ARMC10": [
                            32913992
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                        "THOC1": [
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                        "MGA": [
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                        "ZMYM3": [
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                        "IGLL5": [
                            32720348
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                        "LCN15": [
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                        "PLXNB3": [
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                        "PLTP": [
                            32675277
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                        "IPF1": [
                            32674319
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                        "POLE": [
                            32642724,
                            33021522
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                        "JAK3": [
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                        "PGR": [
                            32554602
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                        "PPP2R2A": [
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                        "MLL2": [
                            32428506
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                        "CD4": [
                            32413741
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                        "CD8": [
                            32413741
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                        "PDL1": [
                            32413741
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                        "KEAP1": [
                            32413741
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                        "GIPC1": [
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                        "THOR": [
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                        "DPH3": [
                            32409749
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                        "PTCH1": [
                            32409749
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                        "RAD54L": [
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                        "FOXL2": [
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                        "GNAQ": [
                            32369821
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                        "SMN1": [
                            32365420
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                        "PLEKHS1": [
                            32326836
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                        "c MYC": [
                            32522823
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                        "JAZF1": [
                            32290854
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                        "PHF1": [
                            32290854
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                        "CD10": [
                            32290854
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                        "PBRM1": [
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                        "AXIN2": [
                            32256810
                        ],
                        "EGF": [
                            32251301
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                        "ERK": [
                            33360044
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                        "HGF": [
                            32251301
                        ],
                        "TNF": [
                            32251301
                        ],
                        "IL-6": [
                            32251301
                        ],
                        "CSF2": [
                            32251301
                        ],
                        "RABL6": [
                            32251301
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                        "RRM2": [
                            32251301
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                        "CDKN1A": [
                            32251301,
                            33948573
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                        "TBX2": [
                            32251301
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                        "E2F1": [
                            32251301
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                        "MED12": [
                            32240666,
                            33190294
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                        "CELSR3": [
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                        "SMARCA4": [
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                        "BTK": [
                            32239765,
                            33190294
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                        "Foxp3": [
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                        "THY1": [
                            32226301
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                        "WT1": [
                            32188030
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                        "CDX2": [
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                        "CEA": [
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                        "MDC1": [
                            32160908
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                        "PRKAR2A": [
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                        "CTDSPL": [
                            32123303
                        ],
                        "GOLGA4": [
                            32123303
                        ],
                        "LRCH3": [
                            32123303
                        ],
                        "MET": [
                            31315834,
                            31798692,
                            32014051,
                            32268332,
                            32297439,
                            32556898,
                            32578376,
                            33240400,
                            33568653
                        ],
                        "PHLDB1": [
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                        "MLH1": [
                            31269413,
                            31273614,
                            31361912,
                            31541339,
                            32039725,
                            32167968,
                            32294063,
                            32658311,
                            32761968,
                            33021522,
                            33309985
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                        "NFKBIE": [
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                        "IDH": [
                            22052707,
                            31842352,
                            32833294
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                        "XRCC2": [
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                        ],
                        "RAD50": [
                            31273614,
                            32019284,
                            32039725,
                            32994724
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                        "SOX9": [
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                        "PMS2CL": [
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                        "PML": [
                            11025664,
                            12810724
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                        "FAM175A": [
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                        ],
                        "AKT": [
                            31315834,
                            31874108,
                            31892193,
                            31956415,
                            33360044
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                        "FOXM1": [
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                        ],
                        "MSH2": [
                            31269413,
                            31273614,
                            31541339,
                            31621921,
                            31697823,
                            32019284,
                            32039725,
                            32167968,
                            32294063,
                            32642724,
                            32658311,
                            33309985,
                            34204722
                        ],
                        "GPCR": [
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                        ],
                        "SMA": [
                            32290854
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                        "CCDC26": [
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                        ],
                        "ER": [
                            31228945,
                            31340200,
                            32167968,
                            32240666
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                        "ANGPTL4": [
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                        "PGP9.5": [
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                        "CHK1": [
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                        "Brd4": [
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                        "PMS2": [
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                            31269413,
                            31273614,
                            31541339,
                            31697823,
                            32039725,
                            32167968,
                            32294063,
                            32761968,
                            33021522,
                            33326660
                        ],
                        "p16": [
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                            31269413,
                            31723240,
                            32058953,
                            32118628,
                            32240666,
                            32307741,
                            32664330
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                        "NT5C2": [
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                        "IRP1": [
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                        "RBM10": [
                            32256810,
                            32295706
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                        "MKI67": [
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                        "RNF43": [
                            31175866,
                            31231124,
                            32965059
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                        "NPM1": [
                            23690417,
                            24487413,
                            27288520,
                            27463065,
                            32188030,
                            32833294
                        ],
                        "NOTCH1": [
                            24619868,
                            24652989,
                            24943832,
                            26837699,
                            31054420,
                            31851786,
                            31854063,
                            31919090,
                            32173361,
                            32277542,
                            32699558,
                            32720348,
                            33190294
                        ],
                        "BMPR1A": [
                            31949278
                        ],
                        "RAD51": [
                            31206626,
                            32039725
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                        "KRAS": [
                            23690417,
                            24619868,
                            24957073,
                            28453411,
                            31092729,
                            31175866,
                            31186738,
                            31207989,
                            31231124,
                            31269413,
                            31400926,
                            31412428,
                            31491041,
                            31619231,
                            31659111,
                            31747302,
                            31748433,
                            31754995,
                            31781186,
                            31798692,
                            31892193,
                            32000721,
                            32077636,
                            32129900,
                            32221744,
                            32256810,
                            32268332,
                            32290854,
                            32295706,
                            32369821,
                            32413741,
                            32699558,
                            33568653,
                            34200790
                        ],
                        "NBN": [
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                            31273614,
                            32039725
                        ],
                        "PI3K": [
                            23334668,
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                "gene_symbol": "TP53"
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                "html_text": "

The TP53 gene provides instructions for making a protein called tumor protein p53 (or p53). This protein acts as a tumor suppressor, which means that it regulates cell division by keeping cells from growing and dividing (proliferating) too fast or in an uncontrolled way.

The p53 protein is located in the nucleus of cells throughout the body, where it attaches (binds) directly to DNA. When the DNA in a cell becomes damaged by agents such as toxic chemicals, radiation, or ultraviolet (UV) rays from sunlight, this protein plays a critical role in determining whether the DNA will be repaired or the damaged cell will self-destruct (undergo apoptosis). If the DNA can be repaired, p53 activates other genes to fix the damage. If the DNA cannot be repaired, this protein prevents the cell from dividing and signals it to undergo apoptosis. By stopping cells with mutated or damaged DNA from dividing, p53 helps prevent the development of tumors.

Because p53 is essential for regulating DNA repair and cell division, it has been nicknamed the \"guardian of the genome.\"

", "date_published_by_ghr": "2020-07-28", "conditions_list": [ { "name": "Bladder Cancer", "html_text": "

Bladder cancer is a disease in which certain cells in the bladder become abnormal and multiply uncontrollably to form a tumor. The bladder is a muscular organ in the lower abdomen that stores urine until it can be removed (excreted) from the body.

Bladder cancer may cause blood in the urine, pain during urination, frequent urination, the feeling of needing to urinate without being able to, or lower back pain. Many of these signs and symptoms are nonspecific, which means they may occur in multiple disorders. People who have one or more of these nonspecific health problems often do not have bladder cancer, but another condition such as an infection.

The most common type of bladder cancer, called non-muscle invasive bladder cancer (NMIBC), involves cells lining the inside of the bladder. NMIBC generally does not spread to other tissues (metastasize), but it often does recur after it has been treated. The other type, called muscle-invasive bladder cancer (MIBC), involves cells of the muscle wall of the bladder. MIBC generally does metastasize and is often life-threatening.

", "ghr_link": "https://ghr.nlm.nih.gov/condition/bladder-cancer" }, { "name": "Breast Cancer", "html_text": "

Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. Although breast cancer is much more common in women, this form of cancer can also develop in men. In both women and men, the most common form of breast cancer begins in cells lining the milk ducts (ductal cancer). In women, cancer can also develop in the glands that produce milk (lobular cancer). Most men have little or no lobular tissue, so lobular cancer in men is very rare.

In its early stages, breast cancer usually does not cause pain and may exhibit no noticeable symptoms. As the cancer progresses, signs and symptoms can include a lump or thickening in or near the breast; a change in the size or shape of the breast; nipple discharge, tenderness, or retraction (turning inward); and skin irritation, dimpling, redness, or scaliness. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a person definitely has breast cancer.

In some cases, cancerous tumors can invade surrounding tissue and spread to other parts of the body. If breast cancer spreads, cancerous cells most often appear in the bones, liver, lungs, or brain. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.

A small percentage of all breast cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary breast cancers tend to develop earlier in life than noninherited (sporadic) cases, and new (primary) tumors are more likely to develop in both breasts.

", "ghr_link": "https://ghr.nlm.nih.gov/condition/breast-cancer" }, { "name": "Cholangiocarcinoma", "html_text": "

Cholangiocarcinoma is a group of cancers that begin in the bile ducts. Bile ducts are branched tubes that connect the liver and gallbladder to the small intestine. They carry bile, which is a fluid that helps the body digest fats that are in food. Bile is made in the liver and stored in the gallbladder before being released in the small intestine after a person eats.

Cholangiocarcinoma is classified by its location in relation to the liver. Intrahepatic cholangiocarcinoma begins in the small bile ducts within the liver. This is the least common form of the disease, accounting for less than 10 percent of all cases. Perihilar cholangiocarcinoma (also known as a Klatskin tumor) begins in an area called the hilum, where the right and left major bile ducts join and leave the liver. It is the most common form of the disease, accounting for more than half of all cases. The remaining cases are classified as distal cholangiocarcinomas, which begin in bile ducts outside the liver. The perihilar and distal forms of the disease, which both occur outside the liver, are sometimes grouped together and called extrahepatic cholangiocarcinoma.

The three types of cholangiocarcinoma do not usually cause any symptoms in their early stages, and this cancer is usually not diagnosed until it has already spread beyond the bile ducts to other tissues. Symptoms often result when bile ducts become blocked by the tumor. The most common symptom is jaundice, in which the skin and whites of the eyes turn yellow. Other symptoms can include extreme tiredness (fatigue), itching, dark-colored urine, loss of appetite, unintentional weight loss, abdominal pain, and light-colored and greasy stools. These symptoms are described as \"nonspecific\" because they can be features of many different diseases.

Most people who develop cholangiocarcinoma are older than 65. Because this cancer is often not discovered until it has already spread, it can be challenging to treat effectively. Affected individuals can survive for several months to several years after diagnosis, depending on the location of the cancer and how advanced it is.

", "ghr_link": "https://ghr.nlm.nih.gov/condition/cholangiocarcinoma" }, { "name": "Head And Neck Squamous Cell Carcinoma", "html_text": "

Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. Squamous cells are found in the outer layer of skin and in the mucous membranes, which are the moist tissues that line body cavities such as the airways and intestines. Head and neck squamous cell carcinoma (HNSCC) develops in the mucous membranes of the mouth, nose, and throat.

HNSCC is classified by its location: it can occur in the mouth (oral cavity), the middle part of the throat near the mouth (oropharynx), the space behind the nose (nasal cavity and paranasal sinuses), the upper part of the throat near the nasal cavity (nasopharynx), the voicebox (larynx), or the lower part of the throat near the larynx (hypopharynx). Depending on the location, the cancer can cause abnormal patches or open sores (ulcers) in the mouth and throat, unusual bleeding or pain in the mouth, sinus congestion that does not clear, sore throat, earache, pain when swallowing or difficulty swallowing, a hoarse voice, difficulty breathing, or enlarged lymph nodes.

HNSCC can spread (metastasize) to other parts of the body, such as the lymph nodes or lungs. If it spreads, the cancer has a worse prognosis and can be fatal. About half of affected individuals survive more than five years after diagnosis.

", "ghr_link": "https://ghr.nlm.nih.gov/condition/head-and-neck-squamous-cell-carcinoma" }, { "name": "Li-Fraumeni Syndrome", "html_text": "

Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.

The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. Other cancers commonly seen in this syndrome include brain tumors, cancers of blood-forming tissues (leukemias), and a cancer called adrenocortical carcinoma that affects the outer layer of the adrenal glands (small hormone-producing glands on top of each kidney). Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome.

A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly increase the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different.

", "ghr_link": "https://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome" }, { "name": "Lung Cancer", "html_text": "

Lung cancer is a disease in which certain cells in the lungs become abnormal and multiply uncontrollably to form a tumor. Lung cancer may not cause signs or symptoms in its early stages. Some people with lung cancer have chest pain, frequent coughing, blood in the mucus, breathing problems, trouble swallowing or speaking, loss of appetite and weight loss, fatigue, or swelling in the face or neck. Additional symptoms can develop if the cancer spreads (metastasizes) into other tissues. Lung cancer occurs most often in adults in their sixties or seventies. Most people who develop lung cancer have a history of long-term tobacco smoking; however, the condition can occur in people who have never smoked.

Lung cancer is generally divided into two types, small cell lung cancer and non-small cell lung cancer, based on the size of the affected cells when viewed under a microscope. Non-small cell lung cancer accounts for 85 percent of lung cancer, while small cell lung cancer accounts for the remaining 15 percent.

Small cell lung cancer grows quickly and in more than half of cases the cancer has spread beyond the lung by the time the condition is diagnosed. Small cell lung cancer often metastasizes, most commonly to the liver, brain, bones, and adrenal glands (small hormone-producing glands located on top of each kidney). After diagnosis, most people with small cell lung cancer survive for about 1 year; less than seven percent survive 5 years.

Non-small cell lung cancer is divided into three main subtypes: adenocarcinoma, squamous cell carcinoma, and large cell lung carcinoma. Adenocarcinoma arises from the cells that line the small air sacs (alveoli) located throughout the lungs. Squamous cell carcinoma arises from squamous cells that line the passages leading from the windpipe (trachea) to the lungs (bronchi). Large cell carcinoma arises from epithelial cells that line the lungs. Large cell carcinoma encompasses non-small cell lung cancers that do not appear to be adenocarcinomas or squamous cell carcinomas. The 5-year survival rate for people with non-small cell lung cancer is usually between 11 and 17 percent; it can be lower or higher depending on the subtype and stage of the cancer.

", "ghr_link": "https://ghr.nlm.nih.gov/condition/lung-cancer" }, { "name": "Melanoma", "html_text": "

Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. This cancer typically occurs in areas that are only occasionally sun-exposed; tumors are most commonly found on the back in men and on the legs in women. Melanoma usually occurs on the skin (cutaneous melanoma), but in about 5 percent of cases it develops in melanocytes in other tissues, including the eyes (uveal melanoma) or mucous membranes that line the body's cavities, such as the moist lining of the mouth (mucosal melanoma). Melanoma can develop at any age, but it most frequently occurs in people in their fifties to seventies and is becoming more common in teenagers and young adults.

Melanoma may develop from an existing mole or other normal skin growth that becomes cancerous (malignant); however, many melanomas are new growths. Melanomas often have ragged edges and an irregular shape. They can range from a few millimeters to several centimeters across. They can also be a variety of colors: brown, black, red, pink, blue, or white.

Most melanomas affect only the outermost layer of skin (the epidermis). If a melanoma becomes thicker and involves multiple layers of skin, it can spread to other parts of the body (metastasize).

A large number of moles or other pigmented skin growths on the body, generally more than 25, is associated with an increased risk of developing melanoma. Melanoma is also a common feature of genetic syndromes affecting the skin such as xeroderma pigmentosum. Additionally, individuals who have previously had melanoma are nearly nine times more likely than the general population to develop melanoma again. It is estimated that about 90 percent of individuals with melanoma survive at least 5 years after being diagnosed.

", "ghr_link": "https://ghr.nlm.nih.gov/condition/melanoma" }, { "name": "Ovarian Cancer", "html_text": "

Ovarian cancer is a disease that affects women. In this form of cancer, certain cells in the ovary become abnormal and multiply uncontrollably to form a tumor. The ovaries are the female reproductive organs in which egg cells are produced. In about 90 percent of cases, ovarian cancer occurs after age 40, and most cases occur after age 60.

The most common form of ovarian cancer begins in epithelial cells, which are the cells that line the surfaces and cavities of the body. These cancers can arise in the epithelial cells on the surface of the ovary. However, researchers suggest that many or even most ovarian cancers begin in epithelial cells on the fringes (fimbriae) at the end of one of the fallopian tubes, and the cancerous cells migrate to the ovary.

Cancer can also begin in epithelial cells that form the lining of the abdomen (the peritoneum). This form of cancer, called primary peritoneal cancer, resembles epithelial ovarian cancer in its origin, symptoms, progression, and treatment. Primary peritoneal cancer often spreads to the ovaries. It can also occur even if the ovaries have been removed. Because cancers that begin in the ovaries, fallopian tubes, and peritoneum are so similar and spread easily from one of these structures to the others, they are often difficult to distinguish. These cancers are so closely related that they are generally considered collectively by experts.

In about 10 percent of cases, ovarian cancer develops not in epithelial cells but in germ cells, which are precursors to egg cells, or in hormone-producing ovarian cells called granulosa cells.

In its early stages, ovarian cancer usually does not cause noticeable symptoms. As the cancer progresses, signs and symptoms can include pain or a feeling of heaviness in the pelvis or lower abdomen, bloating, feeling full quickly when eating, back pain, vaginal bleeding between menstrual periods or after menopause, or changes in urinary or bowel habits. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a woman has ovarian cancer.

In some cases, cancerous tumors can invade surrounding tissue and spread to other parts of the body. If ovarian cancer spreads, cancerous tumors most often appear in the abdominal cavity or on the surfaces of nearby organs such as the bladder or colon. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.

Some ovarian cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary ovarian cancers tend to develop earlier in life than non-inherited (sporadic) cases.

Because it is often diagnosed at a late stage, ovarian cancer can be difficult to treat; it leads to the deaths of about 14,000 women annually in the United States, more than any other gynecological cancer. However, when it is diagnosed and treated early, the 5-year survival rate is high.

", "ghr_link": "https://ghr.nlm.nih.gov/condition/ovarian-cancer" }, { "name": "Wilms Tumor", "html_text": "

Wilms tumor is a form of kidney cancer that primarily develops in children. Nearly all cases of Wilms tumor are diagnosed before the age of 10, with two-thirds being found before age 5.

Wilms tumor is often first noticed because of abdominal swelling or a mass in the kidney that can be felt upon physical examination. Some affected children have abdominal pain, fever, a low number of red blood cells (anemia), blood in the urine (hematuria), or high blood pressure (hypertension). Additional signs of Wilms tumor can include loss of appetite, weight loss, nausea, vomiting, and tiredness (lethargy).

Wilms tumor can develop in one or both kidneys. About 5 to 10 percent of affected individuals develop multiple tumors in one or both kidneys. Wilms tumor may spread from the kidneys to other parts of the body (metastasize). In rare cases, Wilms tumor does not involve the kidneys and occurs instead in the genital tract, bladder, abdomen, chest, or lower back. It is unclear how Wilms tumor develops in these tissues.

With proper treatment, children with Wilms tumor have a 90 percent survival rate. However, the risk that the cancer will come back (recur) is between 15 and 50 percent, depending on traits of the original tumor. Tumors usually recur in the first 2 years following treatment and develop in the kidneys or other tissues, such as the lungs. Individuals who have had Wilms tumor may experience related health problems or late effects of their treatment in adulthood, such as decreased kidney function, heart disease, and development of additional cancers.

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"17p13.1", "ensembl_support_level": "4" }, { "name": "ENST00000604348.1", "strand": "-", "chromo": "chr17", "position": 7578480, "length": 12326, "mrna_length": 568, "coding_length": 429, "canonical": null, "cytoband": "17p13.1", "ensembl_support_level": "4" }, { "name": "ENST00000503591.1", "strand": "-", "chromo": "chr17", "position": 7578547, "length": 12199, "mrna_length": 565, "coding_length": 381, "canonical": null, "cytoband": "17p13.1", "ensembl_support_level": "5" } ], "weill_cornell_medicine_pmkb": { "version": "14-Apr-2020", "items": [ { "tier": 1, "definition": [ "TP53 copy number loss" ], "interpretations": "TP53 is a well known tumor suppressor gene that is mutated in wide variety of cancers. Loss of function mutations (missense, nonsense and frameshift mutations) of TP53 have been described in 10-20% of CLL cases and TP53 gene defects tend to be enriched among cases with unmutated IGH variable regions; in some series, TP53 mutations have been reported in approximately 15%-18% of IGHV unmutated CLL cases . TP53 mutations appears to be less common in other types of CLL (eg, less than 5% of IGHV3-21-expressing CLL carried a TP53 defect according to one study). Mutations of TP53 in CLL have been found together with del17p and mutations in other genes such as NOTCH1 and SF3B1. Mutations and deletions of TP53 appear to represent adverse prognostic markers in chronic lymphocytic leukemia. ", "tissues": [ "Blood", "Bone Marrow", "Lymph Node" ], "tumour_types": [ "Acute Leukemia of Unspecified Cell Type", "Acute Myeloid Leukemia", "Anemia", "Unspecified", "Atypical Chronic Myeloid Leukemia", "B Lymphoblastic Leukemia/Lymphoma", "Chronic Myeloid Leukemia", "Chronic Myelomonocytic Leukemia", "Chronic Neutrophilic Leukemia", "Cytopenia", "Eosinophilia", "Essential Thrombocythemia", "Histiocytic and Dendritic Cell Neoplasms", "Langerhans Cell Histiocytosis", "Leukocytosis", "Leukopenia", "Mast Cell Neoplasm", "MDS with Ring Sideroblasts", "Monocytosis", "Myelodysplastic Syndrome", "Myelodysplastic/Myeloproliferative Neoplasm", "Myeloproliferative Neoplasm", "Myeloid Neoplasm", "Other Acute Leukemia", "Polycythemia Vera", "Polycythemia", "Primary Myelofibrosis", "T Lymphoblastic Leukemia/Lymphoma", "Thrombocytopenia", "Thrombocytosis" ], "disease_or_trait": null, "pub_med_references": [ 23297687, 23334668, 23403321, 24487413, 24619868, 24652989, 24725250, 24943832 ], "variants": [ { "type": "copy number loss", "definition": "TP53 copy number loss", "gene_id": 33956 } ] }, { "tier": 2, "definition": [ "TP53 any mutation" ], "interpretations": "Somatic mutations in TP53 are frequent in human cancer. Germline TP53 mutations cause of Li-Fraumeni syndrome, which is associated with a range of early-onset cancers. The types and positions of TP53 mutations are diverse. TP53 mutations may be potential prognostic and predictive markers in some tumor types, as well as targets for pharmacological intervention in some clinical settings. The IARC TP53 Database (http://www-p53.iarc.fr/) is a useful resource which catalogues TP53 mutations found in cancer.", "tissues": [ "Skin" ], "tumour_types": [ "Melanoma" ], "disease_or_trait": null, "pub_med_references": [ 20182602 ], "variants": [ { "type": "any mutation", "definition": "TP53 any mutation", "gene_id": 33956 } ] }, { "tier": 2, "definition": [ "TP53 any mutation" ], "interpretations": "Somatic mutations in TP53 are frequent in human cancer. Germline TP53 mutations cause of Li-Fraumeni syndrome, which is associated with a range of early-onset cancers. The types and positions of TP53 mutations are diverse. TP53 mutations may be potential prognostic and predictive markers in some tumor types, as well as targets for pharmacological intervention in some clinical settings. The IARC TP53 Database (http://www-p53.iarc.fr/) is a useful resource which catalogues TP53 mutations found in cancer.", "tissues": [ "Colon", "Rectum", "Appendix" ], "tumour_types": [ "Adenocarcinoma" ], "disease_or_trait": null, "pub_med_references": [ 20182602 ], "variants": [ { "type": "any mutation", "definition": "TP53 any mutation", "gene_id": 33956 } ] }, { "tier": 2, "definition": [ "TP53 any mutation" ], "interpretations": "Somatic mutations in TP53 are frequent in human cancer. Germline TP53 mutations cause of Li-Fraumeni syndrome, which is associated with a range of early-onset cancers. The types and positions of TP53 mutations are diverse. TP53 mutations may be potential prognostic and predictive markers in some tumor types, as well as targets for pharmacological intervention in some clinical settings. The IARC TP53 Database (http://www-p53.iarc.fr/) is a useful resource which catalogues TP53 mutations found in cancer.", "tissues": [ "Brain" ], "tumour_types": [ "Glioblastoma" ], "disease_or_trait": null, "pub_med_references": [ 20182602 ], "variants": [ { "type": "any mutation", "definition": "TP53 any mutation", "gene_id": 33956 } ] }, { "tier": 2, "definition": [ "TP53 copy number loss", "TP53 any deletion" ], "interpretations": "P53 activates the transcription of genes involved in cell cycle arrest, DNA repair, and apoptosis. Deletion and point mutation at the TP53 locus occur in 25%-40% and 5%-40% of prostate cancer, respectively. Although the frequency of p53 mutations seems to be lower in prostate cancer than in other cancers, these alterations are not exclusively late events, as they have been shown in 25% to 30% of clinically localized prostate cancer. Several studies indicate that p53 overexpression may be associated with poor prognosis, especially when present in combination with Bcl2. Interestingly, SPOP mutations are also mutually exclusive with deletions and mutations in the TP53 tumor suppressor.\n", "tissues": [ "Prostate" ], "tumour_types": [ "Adenocarcinoma" ], "disease_or_trait": null, "pub_med_references": [ 23759327, 26695660 ], "variants": [ { "type": "copy number loss", "definition": "TP53 copy number loss", "gene_id": 33956 }, { "type": "any mutation", "gene_id": 33956, "coding_impact": "deletion", "definition": "TP53 any deletion" } ] }, { "tier": 2, "definition": [ "TP53 any mutation" ], "interpretations": "Somatic mutations in TP53 are frequent in human cancer. Germline TP53 mutations cause of Li-Fraumeni syndrome, which is associated with a range of early-onset cancers. The types and positions of TP53 mutations are diverse. TP53 mutations may be potential prognostic and predictive markers in some tumor types, as well as targets for pharmacological intervention in some clinical settings. The IARC TP53 Database (http://www-p53.iarc.fr/) is a useful resource which catalogues TP53 mutations found in cancer.", "tissues": [ "Skin" ], "tumour_types": [ "Langerhans Cell Histiocytosis" ], "disease_or_trait": null, "pub_med_references": [ 20182602 ], "variants": [ { "type": "any mutation", "definition": "TP53 any mutation", "gene_id": 33956 } ] }, { "tier": 1, "definition": [ "TP53 copy number loss" ], "interpretations": "TP53 is a well known tumor suppressor gene that is mutated in wide variety of cancers. In terms of myeloid disorders, missense, nonsense, and frameshift mutations of TP53 tend to occur in the DNA binding domain and have been reported in approximately 4% of cases of AML where they tend to be associated with a poorer prognosis and an adverse cytogenetic risk profile. TP53 mutations also occur in approximately 10% of patients with myelodysplastic syndrome (MDS) and are often associated with poorer prognosis, adverse cytogenetic profile and deletion of 5q either in isolation or as part of a complex karyotype. ", "tissues": [ "Blood", "Bone Marrow" ], "tumour_types": [ "Acute Myeloid Leukemia", "Myelodysplastic Syndrome" ], "disease_or_trait": null, "pub_med_references": [ 23297687, 23334668, 23403321, 24487413, 24619868, 24652989, 24725250, 24943832 ], "variants": [ { "type": "copy number loss", "definition": "TP53 copy number loss", "gene_id": 33956 } ] }, { "tier": 1, "definition": [ "TP53 copy number loss" ], "interpretations": " TP53 is a well known tumor suppressor gene that is mutated in wide variety of cancers. Among cases of acute lymphoblastic leukemia, overall TP53 mutations are reported to occur in less than 10% of cases. However, TP53 mutations have a very high prevalence (approximately 90%) among cases of ALL with low hypodiploid karyotype and in this setting are often associated with monosomy 17 and may be associated with germline TP53 mutations in a significant proportion of such cases in children. ", "tissues": [ "Blood", "Bone Marrow" ], "tumour_types": [ "B Lymphoblastic Leukemia/Lymphoma" ], "disease_or_trait": null, "pub_med_references": [ 23297687, 23334668, 23403321, 24487413, 24619868 ], "variants": [ { "type": "copy number loss", "definition": "TP53 copy number loss", "gene_id": 33956 } ] }, { "tier": 2, "definition": [ "TP53 any mutation" ], "interpretations": "Somatic mutations in TP53 are frequent in human cancer. Germline TP53 mutations cause of Li-Fraumeni syndrome, which is associated with a range of early-onset cancers. The types and positions of TP53 mutations are diverse. TP53 mutations may be potential prognostic and predictive markers in some tumor types, as well as targets for pharmacological intervention in some clinical settings. The IARC TP53 Database (http://www-p53.iarc.fr/) is a useful resource which catalogues TP53 mutations found in cancer.", "tissues": [ "Adrenal Gland", "Anus", "Ampulla (Pancreaticobiliary Duct)", "Appendix", "Bladder", "Blood", "Bone", "Bone Marrow", "Brain", "Breast", "Spinal Cord", "Cervix", "Chest Wall", "Endometrium", "Esophagus", "Eye", "Fallopian Tube", "Fibroadipose Tissue", "Gall Bladder", "Kidney", "Larynx", "Liver", "Lung", "Lymph Node", "Nasal Cavity", "Oral Cavity", "Ovary", "Pancreas", "Parathyroid", "Penis", "Peripheral Nervous System", "Peritoneum", "Pharynx", "Pituitary", "Placenta", "Pleura", "Prostate", "Retroperitoneum", "Salivary Gland", "Seminal Vesicle", "Skeletal Muscle", "Skin", "Small Intestine", "Soft Tissue", "Spleen", "Stomach", "Testis", "Thymus", "Thyroid", "Tonsil", "Ureter", "Uterus", "Vagina", "Rectum", "Cartilage", "Blood Vessel", "Buccal Swab", "Heart", "Trachea", "Salivary Duct", "Spermatic Cord", "Vulva", "Infratentorial", "Supratentorial", "Gastroesophageal Junction", "Sellar", "Suprasellar", "Colon" ], "tumour_types": [ "Acinar Cell Carcinoma", "Acinic Cell Carcinoma", "Adenocarcinoma", "Adenoid Cystic Carcinoma", "Adenosarcoma", "Ameloblastic Tumor", "Anaplastic Large Cell Lymphoma", "Angioimmunoblastic T-Cell Lymphoma", "Angiomatoid Fibrous Histiocytoma", "Angiomatosis", "Angiomyolipoma", "Angiosarcoma", "Astrocytoma", "Anaplastic", "Basal Cell Carcinoma", "Burkitt Lymphoma", "Carcinoid Tumor", "Carcinoma", "Carcinosarcoma", "Cholangiocarcinoma", "Chondrosarcoma", "Chordoma", "Choriocarcinoma", "Chromophobe Renal Cell Carcinoma", "Chronic Lymphocytic Leukemia", "Classical Hodgkin Lymphoma", "Clear Cell Carcinoma", "Clear Cell Renal Cell Carcinoma", "Craniopharyngioma", "Dermatofibrosarcoma", "Desmoplastic Small Round Cell Tumor", "Diffuse Large B Cell Lymphoma", "Ductal Carcinoma", "Ependymoma", "Ewing Sarcoma", "Fibromatosis", "Follicular Carcinoma", "Follicular Lymphoma", "Gastrointestinal Stromal Tumor", "Germ Cell Tumor", "Giant Cell Tumor", "Glioblastoma", "Glomus Tumor", "Granular Cell Tumor", "Hairy Cell Leukemia", "Hemangioendothelioma", "Hepatocellular Carcinoma", "Invasive Ductal Carcinoma", "Kaposi Sarcoma", "Leiomyoma", "Leiomyosarcoma", "Lipoma", "Liposarcoma", "Lobular Carcinoma", "Lymphoplasmacytic Lymphoma", "Malignant Mullerian Mixed Tumor", "Mantle Cell Lymphoma", "Marginal Zone B Cell Lymphoma", "Medullary Carcinoma", "Medulloblastoma", "Melanoma", "Meningioma", "Merkel Cell Carcinoma", "Mesothelioma", "Mucinous Adenocarcinoma", "Mucinous Tumors of Ovary", "Mucoepidermoid Carcinoma", "Myxofibrosarcoma", "Nasopharyngeal Carcinoma", "Neuroblastoma", "Neuroendocrine Carcinoma", "Neuroendocrine Neoplasm", "NK Cell Lymphoproliferative Disorder", "NLPHL", "Non-Small Cell Lung Carcinoma", "Oligodendroglioma", "Osteosarcoma", "Papillary Carcinoma", "Papillary Renal Cell Carcinoma", "Peripheral T Cell Lymphoma", "Pheochromocytoma", "Plasma Cell Disorder", "Post-Transplant Lymphoproliferative Disorder", "Primitive Neuroectodermal Tumor", "Renal Cell Carcinoma", "Reninoma", "Retinoblastoma", "Rhabdomyosarcoma", "Sarcoma", "Schwannoma", "Serous Carcinoma", "Sex Cord Stromal Tumor", "Small Cell Carcinoma", "Solid Pseudopapillary Tumor of Pancreas", "Spindle Cell Neoplasm", "Squamous Cell Carcinoma", "T Cell Lymphoproliferative Disorder", "T-Cell LGL Leukemia", "Thymic Carcinoma", "Thymoma", "Urothelial Carcinoma", "Tumors of Peripheral Nerves", "Wilms Tumor", "Pilocytic", "Ganglioglioma", "Neuroepithelial Neoplasm", "NOS", "Pleomorphic Carcinoma", "Solitary Fibrous Tumor", "Neuroepithelial neoplasm", "high grade", "Diffusely Infiltrating", "Diffuse Midline Glioma", "Infiltrating Glioma", "Intraductal Papillary Mucinous Neoplasm (IPMN)", "Lymphadenopathy", "Lymphocytosis", "Symptomatic", "Monoclonal Gammopathy", "Mucinous or Serous Cystic Neoplasms of Pancreas", "Mycosis Fungoides", "Unspecified Site", "Pleomorphic Xanthoastrocytoma", "Rash and Other Nonspecific Skin Eruption" ], "disease_or_trait": null, "pub_med_references": [ 20182602 ], "variants": [ { "type": "any mutation", "definition": "TP53 any mutation", "gene_id": 33956 } ] }, { "tier": 1, "definition": [ "TP53 any mutation" ], "interpretations": "TP53 encodes p53, a tumor suppressor protein that consists of transactivation domain, proline-rich domain, DNA-binding domain, oligomerization domain, and regulatory domain. p53 responds to diverse cellular stresses to maintain genomic stability and to induce cell cycle arrest, apoptosis, DNA repair and metabolic changes. TP53 mutations represent an important mechanism of resistance to DNA-damaging chemotherapeutic agents. Somatic TP53 mutations are found in a variety of cancers with various frequencies depending on cancer type; overall, TP53 is mutated in over one-half of human cancers. Missense mutations were the most frequent (~70-80%), followed by frameshift and nonsense mutations. Most TP53 mutations are clustered in the DNA-binding domain encompassing exons 5 and 8. These mutations either directly disrupt the DNA-binding domain of TP53 or cause conformational changes of the TP53 protein, thus leading to severely impaired TP53 function. Overall in myeloid malignancies, TP53 mutations are found in 5% to 15% of de novo MDS and AML but 20% of myelodysplastic syndrome with isolated del(5q) and ~50% of MDS/AML with complex karyotype. TP53 mutations are also more frequent in therapy-associated myeloid neoplasm (21-38%) compared to de novo MDS and AML. TP53 mutations are also found in 8% of blastic plasmacytoid dendritic cell neoplasm, and less than 5% in myeloproliferative neoplasms (ET, PV and PMF) and chronic myelomonocytic leukemia. TP53 mutations are independently associated with a poor prognosis in myelodysplastic syndrome (NCCN Guidelines for Myelodysplastic Syndromes) and is a poor risk factor in AML (NCCN Guildelines for AML). TP53 mutations are also associated with resistance to lenalidomide or relapse during lenalidomide treatment. TP53 mutations are independently associated with unfavorable outcomes and shorter survival after hematopoietic stem cell transplantation in patients with myelodysplastic syndrome and myelodysplastic syndrome/acute myeloid leukemia, but an increased response to decitabine in patients with myelodysplastic syndrome or acute myeloid leukemia.\n\n", "tissues": [ "Blood", "Bone Marrow" ], "tumour_types": [ "Acute Myeloid Leukemia", "Myeloproliferative Neoplasm", "Mast Cell Neoplasm", "Primary Myelofibrosis", "Myelodysplastic Syndrome", "Chronic Myelomonocytic Leukemia", "Acute Leukemia of Unspecified Cell Type", "Anemia", "Unspecified", "Atypical Chronic Myeloid Leukemia", "B Lymphoblastic Leukemia/Lymphoma", "Chronic Myeloid Leukemia", "Chronic Neutrophilic Leukemia", "Cytopenia", "Eosinophilia", "Essential Thrombocythemia", "Histiocytic and Dendritic Cell Neoplasms", "Langerhans Cell Histiocytosis", "Leukocytosis", "Leukopenia", "MDS with Ring Sideroblasts", "Monocytosis", "Myelodysplastic/Myeloproliferative Neoplasm", "Myeloid Neoplasm", "Other Acute Leukemia", "Polycythemia Vera", "Polycythemia", "T Lymphoblastic Leukemia/Lymphoma", "Thrombocytopenia", "Thrombocytosis" ], "disease_or_trait": null, "pub_med_references": [ 18596741, 21519010, 21714678, 22052707, 23690417, 24072100, 25952993, 26618142, 27288520, 27463065, 27601546, 27959731, 27967292, 29296692 ], "variants": [ { "type": "any mutation", "definition": "TP53 any mutation", "gene_id": 33956 } ] } ] }, "unil_domino": { "version": "04-Sep-2019", "lda_score": 2.7493300000000005, "numberdonor_numbersynonymous": 0.0, "phylop_at_5_prime_utr": 0.5294619999999999, "probability_of_ad": 0.999028, "string_combined_score": 8, "string_experimental_score": 3, "string_text_mining_score": 3, "mrna_half_life": 0 }, "nih_gtex": { "version": "v8", "items": [ { "exons": [ { "exon_id": "ENSG00000141510.16_1", "exon_number": "1", "end": 7580752, "start": 7580643, "expressions": { "spleen": 0.009090910000000002, "cells_ebv_transformed_lymphocytes": 0.009090910000000002, "kidney_medulla": 0.004545450000000001 } }, { "exon_id": "ENSG00000141510.16_2", "exon_number": "2", "end": 7579940, "start": 7579700, "expressions": { "whole_blood": 0.102915, "vagina": 0.23242000000000002, "uterus": 0.2755, "thyroid": 0.17372800000000002, "testis": 0.14353600000000002, "stomach": 0.137694, "spleen": 0.21560400000000002, "small_intestine_terminal_ileum": 0.21303800000000003, "skin_sun_exposed_lower_leg": 0.381197, "skin_not_sun_exposed_suprapubic": 0.35108600000000006, "prostate": 0.16122500000000003, "pituitary": 0.07430660000000001, "pancreas": 0.10821100000000002, "ovary": 0.283714, "nerve_tibial": 0.21063600000000002, "muscle_skeletal": 0.09188690000000002, "minor_salivary_gland": 0.24153700000000003, "lung": 0.15022400000000002, "brain_hypothalamus": 0.031966600000000005, "brain_hippocampus": 0.03401400000000001, "brain_frontal_cortex_ba9": 0.04018340000000001, "brain_cortex": 0.05443330000000002, "brain_cerebellum": 0.021511200000000005, "brain_cerebellar_hemisphere": 0.020583100000000003, "brain_caudate_basal_ganglia": 0.06133980000000002, "brain_anterior_cingulate_cortex_ba24": 0.04255840000000001, "brain_amygdala": 0.04097510000000001, "bladder": 0.22919900000000004, "adipose_visceral_omentum": 0.21172700000000003, "adipose_subcutaneous": 0.263813, "adrenal_gland": 0.18314600000000003, "artery_aorta": 0.17528400000000002, "artery_coronary": 0.19204500000000005, "artery_tibial": 0.21997200000000003, "brain_nucleus_accumbens_basal_ganglia": 0.045643200000000016, "brain_putamen_basal_ganglia": 0.04733570000000001, "brain_spinal_cord_cervical_c_1": 0.04100240000000001, "brain_substantia_nigra": 0.041603000000000015, "breast_mammary_tissue": 0.269109, "cells_cultured_fibroblasts": 0.476196, "cells_ebv_transformed_lymphocytes": 1.36812, "cervix_ectocervix": 0.264577, "cervix_endocervix": 0.20670500000000003, "colon_sigmoid": 0.15429100000000004, "colon_transverse": 0.213174, "esophagus_gastroesophageal_junction": 0.15178000000000003, "esophagus_mucosa": 0.286798, "esophagus_muscularis": 0.13720200000000002, "fallopian_tube": 0.22297400000000003, "heart_atrial_appendage": 0.09248740000000001, "heart_left_ventricle": 0.06633540000000002, "kidney_cortex": 0.08571740000000001, "kidney_medulla": 0.08953920000000003, "liver": 0.0552249 } }, { "exon_id": "ENSG00000141510.16_3", "exon_number": "3", "end": 7579590, "start": 7579312, "expressions": { "whole_blood": 0.3193740000000001, "vagina": 0.7975619999999999, "uterus": 0.8454480000000001, "thyroid": 0.5341450000000001, "testis": 0.44354800000000005, "stomach": 0.44109600000000004, "spleen": 0.7139690000000001, "small_intestine_terminal_ileum": 0.6816170000000001, "skin_sun_exposed_lower_leg": 1.2050599999999998, "skin_not_sun_exposed_suprapubic": 1.1223100000000001, "prostate": 0.5155159999999999, "pituitary": 0.23679500000000003, "pancreas": 0.3439920000000001, "ovary": 0.8799050000000002, "nerve_tibial": 0.6602530000000001, "muscle_skeletal": 0.280796, "minor_salivary_gland": 0.78978, "lung": 0.471043, "brain_hypothalamus": 0.11686500000000002, "brain_hippocampus": 0.105829, "brain_frontal_cortex_ba9": 0.11761900000000002, "brain_cortex": 0.16822300000000004, "brain_cerebellum": 0.06942090000000002, "brain_cerebellar_hemisphere": 0.06017730000000002, "brain_caudate_basal_ganglia": 0.17932900000000002, "brain_anterior_cingulate_cortex_ba24": 0.13641300000000003, "brain_amygdala": 0.14424200000000004, "bladder": 0.8055559999999999, "adipose_visceral_omentum": 0.6860030000000001, "adipose_subcutaneous": 0.8326260000000001, "adrenal_gland": 0.5697040000000001, "artery_aorta": 0.568572, "artery_coronary": 0.6312490000000002, "artery_tibial": 0.705763, "brain_nucleus_accumbens_basal_ganglia": 0.14770800000000003, "brain_putamen_basal_ganglia": 0.15251800000000004, "brain_spinal_cord_cervical_c_1": 0.12370300000000002, "brain_substantia_nigra": 0.132192, "breast_mammary_tissue": 0.855263, "cells_cultured_fibroblasts": 1.43857, "cells_ebv_transformed_lymphocytes": 4.120729999999999, "cervix_ectocervix": 0.780324, "cervix_endocervix": 0.7590310000000001, "colon_sigmoid": 0.477457, "colon_transverse": 0.6918740000000002, "esophagus_gastroesophageal_junction": 0.479627, "esophagus_mucosa": 0.9269480000000001, "esophagus_muscularis": 0.435201, "fallopian_tube": 0.7421240000000001, "heart_atrial_appendage": 0.29494400000000004, "heart_left_ventricle": 0.201, "kidney_cortex": 0.292445, "kidney_medulla": 0.34543000000000007, "liver": 0.19024700000000005 } }, { "exon_id": "ENSG00000141510.16_4", "exon_number": "4", "end": 7578811, "start": 7578371, "expressions": { "whole_blood": 0.14136500000000002, "vagina": 0.34444700000000006, "uterus": 0.38565200000000005, "thyroid": 0.24206300000000003, "testis": 0.19945700000000005, "stomach": 0.21154100000000003, "spleen": 0.33345300000000005, "small_intestine_terminal_ileum": 0.3126860000000001, "skin_sun_exposed_lower_leg": 0.560359, "skin_not_sun_exposed_suprapubic": 0.52463, "prostate": 0.23776700000000003, "pituitary": 0.10851500000000001, "pancreas": 0.16660700000000003, "ovary": 0.41338500000000006, "nerve_tibial": 0.29929, "muscle_skeletal": 0.124418, "minor_salivary_gland": 0.35119, "lung": 0.21634400000000004, "brain_hypothalamus": 0.05058780000000001, "brain_hippocampus": 0.048782700000000005, "brain_frontal_cortex_ba9": 0.05436210000000002, "brain_cortex": 0.08043920000000002, "brain_cerebellum": 0.032491900000000004, "brain_cerebellar_hemisphere": 0.027807600000000005, "brain_caudate_basal_ganglia": 0.08440740000000001, "brain_anterior_cingulate_cortex_ba24": 0.06177650000000001, "brain_amygdala": 0.0660878, "bladder": 0.3452680000000001, "adipose_visceral_omentum": 0.299737, "adipose_subcutaneous": 0.37680500000000006, "adrenal_gland": 0.257683, "artery_aorta": 0.256266, "artery_coronary": 0.275421, "artery_tibial": 0.31053800000000004, "brain_nucleus_accumbens_basal_ganglia": 0.06800790000000001, 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