{
  "schema_version": "helix.evidence_pack.v1",
  "generated_at": "2026-06-02T16:06:26.664Z",
  "meta": {
    "thresholds": {
      "prs_protective_percentile_lte": 20,
      "prs_research_context": "Included for selected non-diagnostic research traits such as neuroimaging brain-region models, even when the agent should treat them as context rather than medical risk.",
      "protein_prs_min_r2": 0.5,
      "protein_prs_tail_percentile_gte": 80,
      "protein_prs_tail_percentile_lte": 20,
      "prs_adverse_tail_risk_percentile_gte": 80
    },
    "source_files": {
      "prs": "agent-input-prs.json",
      "protein_prs": "agent-input-protein-prs.json",
      "pharmacogenomics_phenotypes": "agent-input-pgx-phenotypes.json",
      "pharmacogenomics_cpic": "agent-input-cpic.json",
      "variants": "agent-annotation.db"
    },
    "field_guide": {
      "percentile": "0-100 population percentile. PRS rows are already filtered to high/low tails.",
      "prs_research_context": "Context-only PRS rows, currently including neuroimaging/brain-region models. These can support novel associations or background/awareness framing, not diagnosis.",
      "r2": "0-1 protein model fit. Protein rows are already filtered to R2 >= 0.5.",
      "classification": "Variant source-of-truth use class; confirmation_required means do not treat as diagnosed.",
      "effect_context": "Variant-level direction when known: risk_context, protective_context, mixed_risk_and_protective_context, or omitted when directional evidence is unclear.",
      "variant_inclusion": "Variants are included when they have direct ClinVar/PharmGKB/CPIC evidence, directional protective/risk context, strong GWAS context, or gene-context convergence. Undirected low-value SNPedia-only rows are filtered out.",
      "snpedia_magnitude": "SNPedia rough interestingness score, usually 0-10. Higher means more notable, not more pathogenic.",
      "gene_context": "Gene-level context, weaker than variant-specific ClinVar/SNPedia/GWAS evidence.",
      "source_scores": {
        "clinvar": "Variant-specific clinical assertion. Stars are 0-4, higher is stronger review; submitters is a count; zygosity/match describe this user's allele match.",
        "snpedia": "Variant/genotype context. Magnitude is rough interestingness; complement means SNPedia reports the opposite DNA strand.",
        "gwas": "Variant-trait association context. p_mlog is -log10(p-value), minimum 0 and higher is stronger; effect is odds ratio or beta as supplied by GWAS Catalog.",
        "pharmgkb": "Variant-drug context. Levels run from 1A/1B strongest through 4 weakest; use as evidence strength, not a treatment instruction by itself.",
        "gnomad": "Population allele frequency context. max_af is the highest available population frequency; common variants are not rare monogenic findings.",
        "cpic": "Gene-drug guideline context. Levels run A strongest/actionable through D weakest; included only when tied to patient-matched pharmacogenomic findings.",
        "clingen": "Gene-disease validity context. Definitive/Strong are highest, then Moderate/Limited; use as background unless the user's variant also has direct evidence.",
        "hpo": "Gene-phenotype ontology context. HPO terms describe reported phenotype associations for a gene; use only as background unless paired with stronger direct evidence.",
        "orphanet": "Gene-disease rare-disease context; use as background unless paired with direct variant evidence.",
        "omim": "Gene-disease Mendelian catalog context. MIM numbers identify OMIM entries; use as background unless paired with direct variant evidence.",
        "civic": "Cancer variant/gene evidence context. CIViC levels run A strongest through E weakest; direction states support/refute; rating is 1-5 trust, higher is stronger; origin distinguishes somatic, rare germline, and common germline evidence. Somatic evidence is pathway context only, not a germline patient finding.",
        "disgenet": "Gene-disease literature association. Score is 0-1, higher is stronger; PMIDs is a count; not diagnosis.",
        "cadd": "CADD is a Phred-like deleteriousness score. Minimum is near 0; 10/20/30 roughly mean top 10%/1%/0.1% most unusual among tested variants. Use for prioritization only.",
        "revel": "REVEL is a 0-1 missense pathogenicity score. Minimum 0, maximum 1; higher means stronger predicted deleteriousness. Use for prioritization only.",
        "dann": "DANN is a 0-1 functional-impact score. Minimum 0, maximum 1; higher means stronger predicted deleteriousness. Use for prioritization only.",
        "clinpred": "ClinPred is a 0-1 pathogenicity prediction score. Minimum 0, maximum 1; higher means stronger predicted pathogenicity. Use for prioritization only.",
        "spliceai": "SpliceAI is a 0-1 splice-disruption score. Minimum 0, maximum 1; higher means stronger predicted splice impact. Use for prioritization only.",
        "alphamissense": "AlphaMissense pathogenicity is a 0-1 AI missense score with a classification label. Minimum 0, maximum 1; higher means stronger predicted pathogenicity. Use for prioritization only.",
        "predictions": "Grouped in-silico functional scores. These help prioritize variant context but are not diagnoses and should be paired with stronger direct evidence when making report claims."
      },
      "prs_adverse_tail": "Direction-normalized adverse PRS tail. This can include either high-percentile risk traits or low-percentile adverse traits, while the row percentile remains the original trait percentile."
    },
    "variant_source_coverage": {
      "SNPedia": 162,
      "GWAS Catalog": 141,
      "DisGeNET": 108,
      "HPO": 75,
      "Orphanet": 57,
      "ClinGen": 44,
      "CPIC": 24,
      "CADD": 11,
      "ClinVar": 11,
      "gnomAD": 46,
      "CIViC": 9,
      "DANN": 6,
      "ClinPred": 5,
      "REVEL": 5,
      "AlphaMissense": 4,
      "PharmGKB": 4
    }
  },
  "signals": {
    "prs_protective": [
      {
        "id": "PGS001863",
        "trait": "hematuria",
        "percentile": 0.1
      },
      {
        "id": "PGS001400",
        "trait": "haemoglobin concentration",
        "percentile": 0.2
      },
      {
        "id": "PGS001938",
        "trait": "age first had sexual intercourse",
        "percentile": 1
      },
      {
        "id": "PGS001925",
        "trait": "haematocrit percentage",
        "percentile": 1.7
      },
      {
        "id": "PGS002006",
        "trait": "snoring",
        "percentile": 3.4
      },
      {
        "id": "PGS001920",
        "trait": "recent feelings of foreboding",
        "percentile": 4.4
      },
      {
        "id": "PGS001874",
        "trait": "sebaceous cyst",
        "percentile": 4.5
      },
      {
        "id": "PGS001024",
        "trait": "hemorrhoid",
        "percentile": 5.1
      },
      {
        "id": "PGS001113",
        "trait": "aspirin use self reported",
        "percentile": 5.2
      },
      {
        "id": "PGS001854",
        "trait": "inguinal hernia",
        "percentile": 5.2
      },
      {
        "id": "PGS002779",
        "trait": "incident type 2 diabetes",
        "percentile": 6.2
      },
      {
        "id": "PGS003944",
        "trait": "eosinophil percentage",
        "percentile": 6.4
      },
      {
        "id": "PGS000927",
        "trait": "other dermatitis",
        "percentile": 6.4
      },
      {
        "id": "PGS001003",
        "trait": "number of medications taken",
        "percentile": 6.9
      },
      {
        "id": "PGS001252",
        "trait": "hearing difficulty and deafness",
        "percentile": 7.7
      },
      {
        "id": "PGS001253",
        "trait": "hearing difficulty",
        "percentile": 7.9
      },
      {
        "id": "PGS001989",
        "trait": "mean corpuscular hemoglobin",
        "percentile": 8
      },
      {
        "id": "PGS000680",
        "trait": "cystatin c mg l",
        "percentile": 8.1
      },
      {
        "id": "PGS000139",
        "trait": "lifetime major depressive disorder",
        "percentile": 8.2
      },
      {
        "id": "PGS001820",
        "trait": "hypoglycemia",
        "percentile": 8.4
      },
      {
        "id": "PGS003416",
        "trait": "basal cell carcinoma",
        "percentile": 8.8
      },
      {
        "id": "PGS001837",
        "trait": "cataract",
        "percentile": 9.1
      },
      {
        "id": "PGS001898",
        "trait": "ever depressed for a whole week",
        "percentile": 9.2
      },
      {
        "id": "PGS001845",
        "trait": "varicose veins",
        "percentile": 9.3
      },
      {
        "id": "PGS003924",
        "trait": "white blood cellcount",
        "percentile": 9.5
      },
      {
        "id": "PGS001942",
        "trait": "total bilirubin",
        "percentile": 9.6
      },
      {
        "id": "PGS002009",
        "trait": "systolic blood pressure automated reading",
        "percentile": 9.7
      },
      {
        "id": "PGS003486",
        "trait": "atopic eczema",
        "percentile": 9.9
      },
      {
        "id": "PGS000884",
        "trait": "estimated glomerular filtration rate",
        "percentile": 10
      },
      {
        "id": "PGS001091",
        "trait": "loneliness",
        "percentile": 10.1
      },
      {
        "id": "PGS000962",
        "trait": "chronic ischaemic heart disease",
        "percentile": 10.8
      },
      {
        "id": "PGS001316",
        "trait": "myocardial infarction",
        "percentile": 11.2
      },
      {
        "id": "PGS001384",
        "trait": "degree bothered by feeling tired all the time in the last 3 months",
        "percentile": 11.3
      },
      {
        "id": "PGS001376",
        "trait": "average number of times bowels opened per day",
        "percentile": 11.4
      },
      {
        "id": "PGS001396",
        "trait": "frequency of unenthusiasm disinterest in last 2 weeks",
        "percentile": 12
      },
      {
        "id": "PGS001980",
        "trait": "urea",
        "percentile": 12
      },
      {
        "id": "PGS001994",
        "trait": "myopia diagnosis",
        "percentile": 12.2
      },
      {
        "id": "PGS001993",
        "trait": "use of sun uv protection",
        "percentile": 12.2
      },
      {
        "id": "PGS001886",
        "trait": "albumin",
        "percentile": 12.5
      },
      {
        "id": "PGS001928",
        "trait": "headaches for 3 months",
        "percentile": 12.5
      },
      {
        "id": "PGS001967",
        "trait": "microalbumin in urine",
        "percentile": 12.8
      },
      {
        "id": "PGS001412",
        "trait": "lv ejection fraction",
        "percentile": 13.1
      },
      {
        "id": "PGS000346",
        "trait": "Estrogen receptor negative breast cancer",
        "percentile": 13.1
      },
      {
        "id": "PGS000993",
        "trait": "oily fish consumption",
        "percentile": 13.3
      },
      {
        "id": "PGS001016",
        "trait": "sensitivity hurt feelings",
        "percentile": 13.3
      },
      {
        "id": "PGS001892",
        "trait": "birth weight",
        "percentile": 86.6
      },
      {
        "id": "PGS001080",
        "trait": "freq of tiredness lethargy in last 2 weeks",
        "percentile": 13.4
      },
      {
        "id": "PGS001877",
        "trait": "other arthropathies",
        "percentile": 13.6
      },
      {
        "id": "PGS001858",
        "trait": "functional digestive disorders",
        "percentile": 13.7
      },
      {
        "id": "PGS000940",
        "trait": "intestinal malabsorption",
        "percentile": 13.9
      },
      {
        "id": "PGS001872",
        "trait": "sarcoidosis",
        "percentile": 14.1
      },
      {
        "id": "PGS000840",
        "trait": "fasting proinsulin",
        "percentile": 14.8
      },
      {
        "id": "PGS001258",
        "trait": "radius fracture",
        "percentile": 15.3
      },
      {
        "id": "PGS001140",
        "trait": "seborrheic keratosis",
        "percentile": 15.8
      },
      {
        "id": "PGS000674",
        "trait": "ast to alt ratio",
        "percentile": 16.2
      },
      {
        "id": "PGS001856",
        "trait": "celiac disease",
        "percentile": 17
      },
      {
        "id": "PGS001815",
        "trait": "thyrotoxicosis with or without goiter",
        "percentile": 17.2
      },
      {
        "id": "PGS001095",
        "trait": "hair colour dark brown",
        "percentile": 17.4
      },
      {
        "id": "PGS000216",
        "trait": "Breast cancer intrinsic-like subtype (triple negative)",
        "percentile": 18
      },
      {
        "id": "PGS001884",
        "trait": "abdominal pain",
        "percentile": 18.3
      },
      {
        "id": "PGS001931",
        "trait": "average total household income before tax",
        "percentile": 18.8
      },
      {
        "id": "PGS001631",
        "trait": "volume of pallidum",
        "percentile": 19.1
      },
      {
        "id": "PGS000142",
        "trait": "Probable Depression (low mood or anhedonia, and seen a GP or psychiatrist for nerves, anxiety, tension or depression)",
        "percentile": 19.1
      },
      {
        "id": "PGS001037",
        "trait": "heel bone mineral densityt score automated",
        "percentile": 80.9
      },
      {
        "id": "PGS003908",
        "trait": "impedance of arm",
        "percentile": 19.4
      },
      {
        "id": "PGS001990",
        "trait": "mean corpuscular volume",
        "percentile": 19.4
      },
      {
        "id": "PGS001864",
        "trait": "urinary calculus",
        "percentile": 19.4
      }
    ],
    "prs_research_context": [
      {
        "id": "PGS001512",
        "trait": "median t2star in putamen",
        "percentile": 96.1,
        "context": "neuroimaging_brain_region"
      },
      {
        "id": "PGS001641",
        "trait": "volume of white matter",
        "percentile": 86.2,
        "context": "neuroimaging_brain_region"
      },
      {
        "id": "PGS001541",
        "trait": "volume of brain grey white matter",
        "percentile": 84.1,
        "context": "neuroimaging_brain_region"
      },
      {
        "id": "PGS001534",
        "trait": "total volume of white matter hyperintensities",
        "percentile": 84,
        "context": "neuroimaging_brain_region"
      },
      {
        "id": "PGS001631",
        "trait": "volume of pallidum",
        "percentile": 19.1,
        "context": "neuroimaging_brain_region"
      }
    ],
    "protein_prs": [
      {
        "id": "CD200R1",
        "name": "CD200 Receptor 1",
        "percentile": 0.7,
        "r2": 0.5497,
        "panels": [
          "immune"
        ],
        "plain_language_function": "Immune checkpoint receptor that calms down immune responses"
      },
      {
        "id": "KLK12",
        "name": "Kallikrein 12 Protease",
        "percentile": 99.1,
        "r2": 0.7889,
        "panels": [
          "cancer"
        ],
        "plain_language_function": "Tissue enzyme involved in skin barrier and airway function"
      },
      {
        "id": "ACRV1",
        "name": "Sperm Acrosome Protein",
        "percentile": 1.3,
        "r2": 0.5881,
        "plain_language_function": "A genetically predicted blood-protein signal. In plain terms, this tells us the DNA model expects this protein level to run higher or lower, but it does not diagnose a disease without a real blood test or clinical context."
      },
      {
        "id": "KLK1",
        "name": "Kallikrein-1",
        "percentile": 98.2,
        "r2": 0.6165,
        "panels": [
          "cancer"
        ],
        "plain_language_function": "A tissue kallikrein enzyme that helps create bradykinin/kallidin signaling peptides and can interact with protease-activated receptor pathways. In plain terms, KLK1 can influence local blood flow, blood-vessel tone, fluid leakage into tissues, inflammation, wound repair, and tissue remodeling. In cancer biology its meaning is tissue-specific, so a high KLK1 protein PRS should be treated as a vascular/inflammatory/tissue-remodeling convergence signal, not proof that KLK1 caused a cancer."
      },
      {
        "id": "HBZ",
        "name": "Embryonic Hemoglobin",
        "percentile": 2.4,
        "r2": 0.5431,
        "plain_language_function": "A genetically predicted blood-protein signal. In plain terms, this tells us the DNA model expects this protein level to run higher or lower, but it does not diagnose a disease without a real blood test or clinical context."
      },
      {
        "id": "PLB1",
        "name": "Phospholipase B",
        "percentile": 4.1,
        "r2": 0.5555,
        "panels": [
          "metabolic"
        ],
        "plain_language_function": "A genetically predicted blood-protein signal. In plain terms, this tells us the DNA model expects this protein level to run higher or lower, but it does not diagnose a disease without a real blood test or clinical context."
      },
      {
        "id": "DKKL1",
        "name": "Wnt Pathway Modulator",
        "percentile": 4.9,
        "r2": 0.8321,
        "plain_language_function": "Fine-tunes cell growth signaling during development"
      },
      {
        "id": "CD33",
        "name": "CD33 protein",
        "percentile": 95.1,
        "r2": 0.7974,
        "panels": [
          "immune"
        ],
        "plain_language_function": "An immune signaling or immune-cell surface protein. It helps immune cells communicate, move, or respond to infection and inflammation."
      },
      {
        "id": "OBP2B",
        "name": "Odorant Binding Protein",
        "percentile": 95.1,
        "r2": 0.5533,
        "plain_language_function": "A genetically predicted blood-protein signal. In plain terms, this tells us the DNA model expects this protein level to run higher or lower, but it does not diagnose a disease without a real blood test or clinical context."
      },
      {
        "id": "SPINT3",
        "name": "Protease Inhibitor",
        "percentile": 6.2,
        "r2": 0.7363,
        "plain_language_function": "A protein-processing enzyme. In plain terms, it cuts or modifies other proteins as part of tissue remodeling, digestion, inflammation, or cell signaling."
      },
      {
        "id": "IL6R",
        "name": "Interleukin 6 Receptor",
        "percentile": 93.5,
        "r2": 0.666,
        "panels": [
          "cardiovascular",
          "immune"
        ],
        "plain_language_function": "An immune signaling or immune-cell surface protein. It helps immune cells communicate, move, or respond to infection and inflammation."
      },
      {
        "id": "ICAM2",
        "name": "Immune Cell Adhesion Molecule 2",
        "percentile": 6.6,
        "r2": 0.5536,
        "panels": [
          "cardiovascular",
          "immune"
        ],
        "plain_language_function": "An immune signaling or immune-cell surface protein. It helps immune cells communicate, move, or respond to infection and inflammation."
      },
      {
        "id": "ENPP5",
        "name": "Ectonucleotide pyrophosphatase/phosphodiesterase 5",
        "percentile": 93.3,
        "r2": 0.6477,
        "panels": [
          "neurological"
        ],
        "plain_language_function": "A membrane enzyme family protein involved in cell-surface signaling and tissue biology. The disease direction from a protein PRS is usually exploratory."
      },
      {
        "id": "IL1RAP",
        "name": "IL-1 Receptor Accessory Protein",
        "percentile": 93.1,
        "r2": 0.706,
        "panels": [
          "immune"
        ],
        "plain_language_function": "Helper protein needed for inflammatory IL-1 signaling"
      },
      {
        "id": "DBH",
        "name": "DBH protein",
        "percentile": 92.8,
        "r2": 0.6647,
        "panels": [
          "neurological"
        ],
        "plain_language_function": "A genetically predicted blood-protein signal. In plain terms, this tells us the DNA model expects this protein level to run higher or lower, but it does not diagnose a disease without a real blood test or clinical context."
      },
      {
        "id": "CD70",
        "name": "Immune activation signal CD70",
        "percentile": 7.4,
        "r2": 0.5346,
        "panels": [
          "cancer",
          "immune"
        ],
        "plain_language_function": "A signal on immune cells that helps activate T cells and B cells during an immune response."
      },
      {
        "id": "LILRB5",
        "name": "Leukocyte immunoglobulin-like receptor subfamily B member 5",
        "percentile": 92,
        "r2": 0.7926,
        "panels": [
          "immune"
        ],
        "plain_language_function": "An immune-cell receptor in the leukocyte immunoglobulin-like receptor family. It is pathway context for immune signaling, not a diagnosis by itself."
      },
      {
        "id": "PRSS53",
        "name": "Serine Protease 53",
        "percentile": 91.8,
        "r2": 0.5164,
        "plain_language_function": "Enzyme that may influence hair texture and skin characteristics"
      },
      {
        "id": "FUCA1",
        "name": "Alpha-L-fucosidase 1",
        "percentile": 10.2,
        "r2": 0.822,
        "panels": [
          "metabolic"
        ],
        "plain_language_function": "A lysosomal cleanup enzyme that helps break down sugar-modified molecules inside cells."
      },
      {
        "id": "SFTPD",
        "name": "Lung Surfactant Protein D",
        "percentile": 89.5,
        "r2": 0.5378,
        "panels": [
          "immune"
        ],
        "plain_language_function": "A genetically predicted blood-protein signal. In plain terms, this tells us the DNA model expects this protein level to run higher or lower, but it does not diagnose a disease without a real blood test or clinical context."
      },
      {
        "id": "LILRA3",
        "name": "Immune Activating Receptor",
        "percentile": 11.1,
        "r2": 0.577,
        "panels": [
          "immune"
        ],
        "plain_language_function": "An immune signaling or immune-cell surface protein. It helps immune cells communicate, move, or respond to infection and inflammation."
      },
      {
        "id": "KIR2DS4",
        "name": "Natural Killer Cell Activator",
        "percentile": 11.7,
        "r2": 0.7795,
        "panels": [
          "immune"
        ],
        "plain_language_function": "Triggers NK cells to destroy infected or abnormal cells"
      },
      {
        "id": "ABO",
        "name": "Blood group ABO glycosyltransferase",
        "percentile": 86.9,
        "r2": 0.6423,
        "panels": [
          "cardiovascular"
        ],
        "plain_language_function": "A blood-group enzyme that helps decorate blood cells and some proteins with A/B/O sugar markers. These markers can also relate to clotting and inflammation pathways."
      },
      {
        "id": "DPEP1",
        "name": "Kidney Membrane Enzyme",
        "percentile": 86,
        "r2": 0.548,
        "panels": [
          "metabolic"
        ],
        "plain_language_function": "A genetically predicted blood-protein signal. In plain terms, this tells us the DNA model expects this protein level to run higher or lower, but it does not diagnose a disease without a real blood test or clinical context."
      },
      {
        "id": "SIGLEC5",
        "name": "Sialic acid-binding Ig-like lectin 5",
        "percentile": 85.1,
        "r2": 0.505,
        "panels": [
          "immune"
        ],
        "plain_language_function": "An immune-cell surface receptor that recognizes sialic-acid patterns and can tune inflammatory signaling."
      },
      {
        "id": "BST1",
        "name": "BST1 protein",
        "percentile": 84.9,
        "r2": 0.7006,
        "panels": [
          "immune"
        ],
        "plain_language_function": "A genetically predicted blood-protein signal. In plain terms, this tells us the DNA model expects this protein level to run higher or lower, but it does not diagnose a disease without a real blood test or clinical context."
      },
      {
        "id": "ENTPD6",
        "name": "ENTPD6 protein",
        "percentile": 83.8,
        "r2": 0.5134,
        "plain_language_function": "A genetically predicted blood-protein signal. In plain terms, this tells us the DNA model expects this protein level to run higher or lower, but it does not diagnose a disease without a real blood test or clinical context."
      },
      {
        "id": "PSPN",
        "name": "PSPN protein",
        "percentile": 82.6,
        "r2": 0.5175,
        "panels": [
          "neurological"
        ],
        "plain_language_function": "A genetically predicted blood-protein signal. In plain terms, this tells us the DNA model expects this protein level to run higher or lower, but it does not diagnose a disease without a real blood test or clinical context."
      },
      {
        "id": "KIR3DL1",
        "name": "Killer cell immunoglobulin-like receptor 3DL1",
        "percentile": 17.6,
        "r2": 0.5981,
        "panels": [
          "immune"
        ],
        "plain_language_function": "A natural-killer-cell receptor involved in immune recognition through HLA-related signaling. It is pathway context, not proof of an immune disease."
      },
      {
        "id": "PZP",
        "name": "Pregnancy Zone Protein",
        "percentile": 18,
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        "panels": [
          "cardiovascular"
        ],
        "plain_language_function": "A genetically predicted blood-protein signal. In plain terms, this tells us the DNA model expects this protein level to run higher or lower, but it does not diagnose a disease without a real blood test or clinical context."
      },
      {
        "id": "CHIT1",
        "name": "CHIT1 protein",
        "percentile": 81.2,
        "r2": 0.5397,
        "panels": [
          "immune"
        ],
        "plain_language_function": "A genetically predicted blood-protein signal. In plain terms, this tells us the DNA model expects this protein level to run higher or lower, but it does not diagnose a disease without a real blood test or clinical context."
      },
      {
        "id": "LECT2",
        "name": "Liver Immune Modulator",
        "percentile": 80.9,
        "r2": 0.5765,
        "panels": [
          "cardiovascular",
          "metabolic"
        ],
        "plain_language_function": "An immune signaling or immune-cell surface protein. It helps immune cells communicate, move, or respond to infection and inflammation."
      },
      {
        "id": "MICB_MICA",
        "name": "Immune Stress Signal",
        "percentile": 80.5,
        "r2": 0.7159,
        "panels": [
          "immune"
        ],
        "plain_language_function": "An immune signaling or immune-cell surface protein. It helps immune cells communicate, move, or respond to infection and inflammation."
      }
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      {
        "id": "rs10929302",
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              "drug": "irinotecan",
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      {
        "id": "rs11045819",
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            {
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                "disease": "Rotor syndrome",
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            {
              "trait": "Skin colour saturation",
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                "term": "Heterochromia iridis",
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        "id": "rs1042713",
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                "term": "Anti-nucleoporin 62 antibody positivity",
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          "phenotype": "Intermediate Metabolizer",
          "affected_medicines": [
            "celecoxib",
            "flurbiprofen",
            "ibuprofen",
            "lornoxicam",
            "meloxicam",
            "piroxicam"
          ]
        },
        {
          "gene": "CYP3A5",
          "diplotype": "*3/*3",
          "phenotype": "Poor Metabolizer",
          "affected_medicines": [
            "tacrolimus"
          ]
        },
        {
          "gene": "NAT2",
          "diplotype": "*5/*5",
          "phenotype": "Poor Metabolizer",
          "affected_medicines": [
            "hydralazine"
          ]
        },
        {
          "gene": "SLCO1B1",
          "diplotype": "*15/*37",
          "phenotype": "Decreased Function",
          "affected_medicines": [
            "atorvastatin",
            "lovastatin",
            "pitavastatin",
            "pravastatin",
            "simvastatin"
          ]
        }
      ]
    },
    "prs_adverse_tail": [
      {
        "id": "PGS000942",
        "trait": "cholecystitis",
        "percentile": 99.7
      },
      {
        "id": "PGS001256",
        "trait": "gallstones",
        "percentile": 99.6
      },
      {
        "id": "PGS001895",
        "trait": "cholesterol",
        "percentile": 99.5
      },
      {
        "id": "PGS001919",
        "trait": "fluid intelligence score",
        "percentile": 0.7
      },
      {
        "id": "PGS001174",
        "trait": "cholelithiasis",
        "percentile": 98
      },
      {
        "id": "PGS001821",
        "trait": "disorders of lipoid metabolism",
        "percentile": 97.9
      },
      {
        "id": "PGS001257",
        "trait": "childhood sunburn",
        "percentile": 97.6
      },
      {
        "id": "PGS001005",
        "trait": "number of self reported cancers",
        "percentile": 97.2
      },
      {
        "id": "PGS001031",
        "trait": "fibroblastic disorders",
        "percentile": 97.2
      },
      {
        "id": "PGS002042",
        "trait": "corneal dystrophy",
        "percentile": 97
      },
      {
        "id": "PGS003945",
        "trait": "basophil percentage",
        "percentile": 96.9
      },
      {
        "id": "PGS001948",
        "trait": "qrs duration",
        "percentile": 96.9
      },
      {
        "id": "PGS001834",
        "trait": "macular degenerationof retina nos",
        "percentile": 96.2
      },
      {
        "id": "PGS001512",
        "trait": "median t2star in putamen",
        "percentile": 96.1
      },
      {
        "id": "PGS001902",
        "trait": "p duration",
        "percentile": 95.9
      },
      {
        "id": "PGS001923",
        "trait": "time spent watching televisionor using computer",
        "percentile": 95.4
      },
      {
        "id": "PGS000327",
        "trait": "autism spectrum disorder",
        "percentile": 95.1
      },
      {
        "id": "PGS001904",
        "trait": "pq interval",
        "percentile": 95
      },
      {
        "id": "PGS001978",
        "trait": "sleep duration",
        "percentile": 94.9
      },
      {
        "id": "PGS001883",
        "trait": "osteoporosis",
        "percentile": 94.7
      },
      {
        "id": "PGS004128",
        "trait": "chronic kidney disease",
        "percentile": 94.7
      },
      {
        "id": "PGS000843",
        "trait": "WHR adjusted for BMI",
        "percentile": 94.2
      },
      {
        "id": "PGS001889",
        "trait": "apolipoprotein b",
        "percentile": 92.9
      },
      {
        "id": "PGS001966",
        "trait": "mean carotid imtat 120 150 210 240 degrees",
        "percentile": 92.7
      },
      {
        "id": "PGS001940",
        "trait": "alanine aminotransferase",
        "percentile": 92.7
      },
      {
        "id": "PGS001866",
        "trait": "endometriosis",
        "percentile": 91.8
      },
      {
        "id": "PGS001937",
        "trait": "ease of skin tanning",
        "percentile": 91.7
      },
      {
        "id": "PGS000950",
        "trait": "skin changes due to chronic exposure to nonionising radiation",
        "percentile": 91.6
      },
      {
        "id": "PGS002001",
        "trait": "total protein",
        "percentile": 91.3
      },
      {
        "id": "PGS003943",
        "trait": "neutrophil percentage",
        "percentile": 91.1
      },
      {
        "id": "PGS001237",
        "trait": "lung function",
        "percentile": 9.8
      },
      {
        "id": "PGS001916",
        "trait": "falls in the last year",
        "percentile": 89.9
      },
      {
        "id": "PGS001861",
        "trait": "cholelithiasis and cholecystitis",
        "percentile": 89.8
      },
      {
        "id": "PGS000026",
        "trait": "Alzheimer's disease",
        "percentile": 89.8
      },
      {
        "id": "PGS000935",
        "trait": "high blood pressure age at diagnosis",
        "percentile": 89.3
      },
      {
        "id": "PGS001282",
        "trait": "migraine",
        "percentile": 89.3
      },
      {
        "id": "PGS001052",
        "trait": "time spend outdoors in summer",
        "percentile": 89.1
      },
      {
        "id": "PGS000058",
        "trait": "coronary artery disease",
        "percentile": 88.9
      },
      {
        "id": "PGS001839",
        "trait": "coronary atherosclerosis",
        "percentile": 88.7
      },
      {
        "id": "PGS002302",
        "trait": "Glioma",
        "percentile": 88.3
      },
      {
        "id": "PGS002181",
        "trait": "lipoprotein a",
        "percentile": 87.4
      },
      {
        "id": "PGS001109",
        "trait": "vasomotor and allergic rhinitis",
        "percentile": 86.8
      },
      {
        "id": "PGS001825",
        "trait": "overweight obesity and other hyperalimentation",
        "percentile": 86.5
      },
      {
        "id": "PGS001641",
        "trait": "volume of white matter",
        "percentile": 86.2
      },
      {
        "id": "PGS003753",
        "trait": "attention deficit hyperactivity disorder",
        "percentile": 86.1
      },
      {
        "id": "PGS003745",
        "trait": "skin melanoma",
        "percentile": 85.9
      },
      {
        "id": "PGS000990",
        "trait": "retinal detachments and breaks",
        "percentile": 85
      },
      {
        "id": "PGS000077",
        "trait": "lymphocytic leukemia",
        "percentile": 84.8
      },
      {
        "id": "PGS000028",
        "trait": "Breast cancer",
        "percentile": 84.6
      },
      {
        "id": "PGS001541",
        "trait": "volume of brain grey white matter",
        "percentile": 84.1
      },
      {
        "id": "PGS001534",
        "trait": "total volume of white matter hyperintensities",
        "percentile": 84
      },
      {
        "id": "PGS000817",
        "trait": "gamma glutamyl transferase",
        "percentile": 82.8
      },
      {
        "id": "PGS000340",
        "trait": "LDL cholesterol",
        "percentile": 82.6
      },
      {
        "id": "PGS000844",
        "trait": "predicted visceral adipose tissue",
        "percentile": 82.1
      },
      {
        "id": "PGS001028",
        "trait": "diabetic eye disease",
        "percentile": 81
      },
      {
        "id": "PGS001116",
        "trait": "ibuprofen use",
        "percentile": 80.9
      },
      {
        "id": "PGS001398",
        "trait": "friendship satisfaction",
        "percentile": 80.9
      }
    ]
  },
  "requirements": {
    "output": "Return only the final report JSON requested by the prompt.",
    "include": [
      "diet plan",
      "training plan",
      "medication safety when PGx findings exist"
    ],
    "exclude_visible_text": [
      "packet",
      "Suggested checks",
      "PRS/PGS/R2 jargon",
      "rsID jargon unless the UI evidence field requires it"
    ],
    "evidence_rule": "Use source IDs from reference_ids for evidence_refs; visible prose must stay layperson-friendly."
  },
  "reference_ids": {
    "prs": [
      "PGS000942",
      "PGS001256",
      "PGS001895",
      "PGS001919",
      "PGS001174",
      "PGS001821",
      "PGS001257",
      "PGS001005",
      "PGS001031",
      "PGS002042",
      "PGS003945",
      "PGS001948",
      "PGS001834",
      "PGS001512",
      "PGS001902",
      "PGS001923",
      "PGS000327",
      "PGS001904",
      "PGS001978",
      "PGS001883",
      "PGS004128",
      "PGS000843",
      "PGS001889",
      "PGS001966",
      "PGS001940",
      "PGS001866",
      "PGS001937",
      "PGS000950",
      "PGS002001",
      "PGS003943",
      "PGS001237",
      "PGS001916",
      "PGS001861",
      "PGS000026",
      "PGS000935",
      "PGS001282",
      "PGS001052",
      "PGS000058",
      "PGS001839",
      "PGS002302",
      "PGS002181",
      "PGS001109",
      "PGS001825",
      "PGS001641",
      "PGS003753",
      "PGS003745",
      "PGS000990",
      "PGS000077",
      "PGS000028",
      "PGS001541",
      "PGS001534",
      "PGS000817",
      "PGS000340",
      "PGS000844",
      "PGS001028",
      "PGS001116",
      "PGS001398",
      "PGS001863",
      "PGS001400",
      "PGS001938",
      "PGS001925",
      "PGS002006",
      "PGS001920",
      "PGS001874",
      "PGS001024",
      "PGS001113",
      "PGS001854",
      "PGS002779",
      "PGS003944",
      "PGS000927",
      "PGS001003",
      "PGS001252",
      "PGS001253",
      "PGS001989",
      "PGS000680",
      "PGS000139",
      "PGS001820",
      "PGS003416",
      "PGS001837",
      "PGS001898",
      "PGS001845",
      "PGS003924",
      "PGS001942",
      "PGS002009",
      "PGS003486",
      "PGS000884",
      "PGS001091",
      "PGS000962",
      "PGS001316",
      "PGS001384",
      "PGS001376",
      "PGS001396",
      "PGS001980",
      "PGS001994",
      "PGS001993",
      "PGS001886",
      "PGS001928",
      "PGS001967",
      "PGS001412",
      "PGS000346",
      "PGS000993",
      "PGS001016",
      "PGS001892",
      "PGS001080",
      "PGS001877",
      "PGS001858",
      "PGS000940",
      "PGS001872",
      "PGS000840",
      "PGS001258",
      "PGS001140",
      "PGS000674",
      "PGS001856",
      "PGS001815",
      "PGS001095",
      "PGS000216",
      "PGS001884",
      "PGS001931",
      "PGS001631",
      "PGS000142",
      "PGS001037",
      "PGS003908",
      "PGS001990",
      "PGS001864"
    ],
    "proteins": [
      "CD200R1",
      "KLK12",
      "ACRV1",
      "KLK1",
      "HBZ",
      "PLB1",
      "DKKL1",
      "CD33",
      "OBP2B",
      "SPINT3",
      "IL6R",
      "ICAM2",
      "ENPP5",
      "IL1RAP",
      "DBH",
      "CD70",
      "LILRB5",
      "PRSS53",
      "FUCA1",
      "SFTPD",
      "LILRA3",
      "KIR2DS4",
      "ABO",
      "DPEP1",
      "SIGLEC5",
      "BST1",
      "ENTPD6",
      "PSPN",
      "KIR3DL1",
      "PZP",
      "CHIT1",
      "LECT2",
      "MICB_MICA"
    ],
    "variants": [
      "rs10929302",
      "rs11045819",
      "rs1110400",
      "rs1042713",
      "rs10276036",
      "rs10841753",
      "rs11150606",
      "rs11045818",
      "rs1006737",
      "rs1041981",
      "rs111033529",
      "rs111784356",
      "rs1800379",
      "rs11125529",
      "rs1061970",
      "rs1042695",
      "rs10770125",
      "rs10079250",
      "rs1050239",
      "rs10512472",
      "rs1059611",
      "rs1018827",
      "rs10440833",
      "rs11161521",
      "rs11168070",
      "rs1077835",
      "rs10886471",
      "rs10883841",
      "rs10868138",
      "rs10188577",
      "rs10495928",
      "rs1051740",
      "rs1059896",
      "rs1076560",
      "rs1079597",
      "rs1079598",
      "rs1042714",
      "rs1042717",
      "rs1042718",
      "rs1042719",
      "rs10466210",
      "rs1058930",
      "rs10165485",
      "rs10516089",
      "rs10799824",
      "rs1042031",
      "rs1001179",
      "rs10278040",
      "rs10428132",
      "rs10500355",
      "rs11170164",
      "rs1042114",
      "rs10513789",
      "rs10761779",
      "rs10501320",
      "rs10821936",
      "rs10484558",
      "rs11078927",
      "rs11066015",
      "rs1026916",
      "rs10401969",
      "rs10489615",
      "rs10821905",
      "rs11118555",
      "rs1042725",
      "rs10934853",
      "rs10774625",
      "rs10822013",
      "rs11145465",
      "rs10889676",
      "rs1154510",
      "rs1077667",
      "rs10159477",
      "rs11158820",
      "rs10166942",
      "rs10052657",
      "rs10199768",
      "rs10195871",
      "rs1051424",
      "rs10028805",
      "rs1058205",
      "rs10414043",
      "rs1108580",
      "rs11129795",
      "rs10513686",
      "rs10784502",
      "rs10876864",
      "rs11024102",
      "rs10004195",
      "rs10988217",
      "rs10937275",
      "rs10733310",
      "rs10120688",
      "rs10761785",
      "rs1053004",
      "rs10818854",
      "rs10507349",
      "rs1064395",
      "rs10994415",
      "rs10995190",
      "rs1078806",
      "rs1046089",
      "rs1005390",
      "rs1057233",
      "rs1061631",
      "rs10838801",
      "rs10491003",
      "rs1109748",
      "rs10838798",
      "rs10994359",
      "rs1017226",
      "rs1046080",
      "rs11075995",
      "rs10488631",
      "rs10411936",
      "rs10492972",
      "rs10843164",
      "rs1044873",
      "rs10490823",
      "rs10506525",
      "rs11012",
      "rs10765792",
      "rs10947789",
      "rs10965235",
      "rs11066280",
      "rs10255299",
      "rs10503253",
      "rs10889677",
      "rs10956483",
      "rs1049346",
      "rs10883365",
      "rs10782001",
      "rs10506328",
      "rs10838708",
      "rs11119805",
      "rs10899489",
      "rs1101999",
      "rs11109072",
      "rs10831496",
      "rs10108684",
      "rs10424878",
      "rs1105879",
      "rs11177669",
      "rs10089517",
      "rs10402271",
      "rs10494112",
      "rs10865331",
      "rs1015451",
      "rs11117432",
      "rs11104870",
      "rs10503669",
      "rs1063739",
      "rs10892279",
      "rs10105606",
      "rs10505483",
      "rs1046896",
      "rs10047462",
      "rs1044032",
      "rs11144688",
      "rs10758658",
      "rs10900585",
      "rs10770705"
    ],
    "pgx": [
      "CYP2C19",
      "CYP2C9",
      "CYP3A5",
      "NAT2",
      "SLCO1B1"
    ]
  }
}