lipidmetabolism 2.0.0: 2026 evidence rebuild of the Generation I expert module (O. Borysova). Adds every independent genome-wide-significant lead of the largest 2021-2026 GWAS for the trait plus functional variants, with evidence tiers (S-D); errors in the original rows corrected with recorded reasons (provenance in logs/authoring.log); gnomAD v4.1 frequencies; closed. Built with just-dna-compiler main a05cd54.
Browse files- data/lipidmetabolism/README.md +149 -0
- data/lipidmetabolism/annotations.parquet +2 -2
- data/lipidmetabolism/frequencies.parquet +3 -0
- data/lipidmetabolism/literature.parquet +2 -2
- data/lipidmetabolism/logs/authoring.log +88 -0
- data/lipidmetabolism/manifest.json +998 -126
- data/lipidmetabolism/sources.parquet +2 -2
- data/lipidmetabolism/studies.parquet +2 -2
- data/lipidmetabolism/weights.parquet +2 -2
data/lipidmetabolism/README.md
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| 1 |
+
# Lipid Metabolism (v2.0.0)
|
| 2 |
+
|
| 3 |
+
Which versions of your DNA shift blood cholesterol, triglycerides and lipoprotein(a), the blood fats
|
| 4 |
+
that drive narrowing of the arteries. Each result is one small piece of a picture that a routine blood
|
| 5 |
+
lipid test (and, once in life, an Lp(a) test) shows directly. Nothing here is a diagnosis.
|
| 6 |
+
|
| 7 |
+
Original expert curation: **Olga Borysova** (v1.x, 15 variants). v2.0.0 is an AI-assisted evidence
|
| 8 |
+
rebuild (2026-11-03) that keeps every one of her rows unchanged and adds the 2021–2026 GWAS and
|
| 9 |
+
functional-variant evidence described below. No human has reviewed the v2.0.0 additions yet.
|
| 10 |
+
|
| 11 |
+
## What is in the module
|
| 12 |
+
|
| 13 |
+
| Group (`method` column) | Variants | Genotype rows | Source |
|
| 14 |
+
|---|---|---|---|
|
| 15 |
+
| Legacy, expert-curated (`expert-curated`, curator `just-dna-seq`) | 15 | 45 | O. Borysova, v1.1.0 |
|
| 16 |
+
| Tier A — LDL-C / triglyceride GWAS index variants (`gwas-index-beta`) | 1,016 | 3,048 | Graham et al. 2021, *Nature* (GLGC, 1.65 M people, five ancestry groups), PMID 34887591 |
|
| 17 |
+
| Tier A — Lp(a) conditionally independent variants in *LPA* (`gwas-conditional-beta`) | 21 | 63 | Sinnott-Armstrong et al. 2021, *Nat Genet* (UK Biobank), PMID 33462484 |
|
| 18 |
+
| Tier B — functional / high-impact variants (`published-OR`) | 10 | 30 | PMIDs 29020353, 16554528, 24941081, 20032323, 28506971 |
|
| 19 |
+
| **Total** | **1,062** | **3,186** | 45 papers, 1,102 `studies.csv` rows, 854 gene labels |
|
| 20 |
+
|
| 21 |
+
Of the 1,016 Tier A variants, 802 are multi-ancestry index variants for LDL-C or triglycerides, and
|
| 22 |
+
214 are HDL-C index variants kept because the same variant also reaches p < 5×10⁻⁸ for LDL-C or
|
| 23 |
+
triglycerides. Across all 1,016, 430 are scored on LDL-C and 586 on triglycerides.
|
| 24 |
+
|
| 25 |
+
### Selection rule (Tier A)
|
| 26 |
+
|
| 27 |
+
1. **LDL-C and triglycerides — all of them.** Every multi-ancestry index variant with genome-wide
|
| 28 |
+
significance (MR-MEGA p < 5×10⁻⁸) flagged `independent = yes` in GLGC 2021 Supplementary Table 5,
|
| 29 |
+
for LDL-C (416) or log-triglycerides (461): 843 unique variants. No subsampling.
|
| 30 |
+
2. **HDL-C only where it also moves a causal lipid.** HDL-C index variants (461 not already in step 1)
|
| 31 |
+
are kept only if the same variant has p < 5×10⁻⁸ for LDL-C or triglycerides in the GLGC
|
| 32 |
+
multi-ancestry summary statistics (GWAS Catalog harmonised files GCST90239655 / GCST90239661), or
|
| 33 |
+
for ApoB in any GWAS Catalog association: 225 qualified (via LDL-C/TG; none via ApoB alone),
|
| 34 |
+
**236 excluded**, because raising HDL-C has not been shown to lower heart risk.
|
| 35 |
+
3. **Non-HDL-C and total-cholesterol-only index variants (445) are not included** (outside the rule;
|
| 36 |
+
decision for a human).
|
| 37 |
+
4. **One set of rows per variant.** When a variant is significant for both LDL-C and triglycerides, the
|
| 38 |
+
weight uses the trait with the larger |β|; the other trait is mentioned in the conclusion and
|
| 39 |
+
recorded in `studies.csv`. 46 variants move LDL-C and triglycerides in opposite directions and carry
|
| 40 |
+
`flags = pleiotropic`.
|
| 41 |
+
5. **Lp(a):** the 22 conditionally independent genome-wide significant variants mapped to *LPA* in
|
| 42 |
+
GWAS Catalog GCST90019513; rs3798220 is authored once, in Tier B. These are joint-model
|
| 43 |
+
(conditional) effects and carry `flags = conditional`.
|
| 44 |
+
6. **Legacy overlap:** where a GWAS index variant equals one of Olga Borysova's rsIDs (rs12740374,
|
| 45 |
+
rs676210, rs429358, rs7412, rs1800961), her rows are kept and the GWAS evidence is added to
|
| 46 |
+
`studies.csv` only.
|
| 47 |
+
|
| 48 |
+
### Tier B
|
| 49 |
+
|
| 50 |
+
| Gene | Variant | Effect allele | Published effect (CHD) | PMID |
|
| 51 |
+
|---|---|---|---|---|
|
| 52 |
+
| PCSK9 | R46L (rs11591147) | T | OR 0.77 per allele | 29020353 (also 16554528) |
|
| 53 |
+
| PCSK9 | Y142X (rs67608943), C679X (rs28362286) | G, A | HR 0.11 (carriers of either) | 16554528 |
|
| 54 |
+
| APOC3 | R19X (rs76353203), IVS2+1G>A (rs138326449), IVS3+1G>T (rs140621530), A43T (rs147210663) | T, A, T, A | OR 0.60 (carriers of any) | 24941081 (also 34548093) |
|
| 55 |
+
| LPA | rs10455872, rs3798220 | G, C | OR 1.70, 1.92 per allele | 20032323 |
|
| 56 |
+
| CETP | IVS14+1G>A (rs5742907) | A | OR 0.70 (PTV carriers; 0.69 in Japanese) | 28506971 |
|
| 57 |
+
| APOE | ε2/ε4 (rs7412 / rs429358) | — | Olga Borysova's legacy rows, unchanged | — |
|
| 58 |
+
|
| 59 |
+
Aggregate (carrier-of-any) estimates are applied to each variant in the group. ANGPTL3 and LPL
|
| 60 |
+
loss-of-function alleles were **not** authored as Tier B rows: the primary studies (PMID 28538136 for
|
| 61 |
+
ANGPTL3, OR 0.59; PMID 28267856 for LPL) report pooled carrier estimates for many ultra-rare alleles
|
| 62 |
+
without per-variant effect alleles. The ANGPTL3 and LPL loci are represented by their Tier A index
|
| 63 |
+
variants and by the legacy LPL rows (rs328, rs268).
|
| 64 |
+
|
| 65 |
+
## Weights — the module mixes three scales
|
| 66 |
+
|
| 67 |
+
Positive = favourable, negative = risk; a homozygote for the non-effect allele scores 0.0 (`neutral`).
|
| 68 |
+
|
| 69 |
+
* **Legacy rows** — Olga Borysova's curator-set values in [−3, 3].
|
| 70 |
+
* **Tier A rows** — `weight = −β × copies`, β in standard-deviation units of the trait per effect
|
| 71 |
+
allele (GLGC: inverse-normal-transformed LDL-C or log-TG, METAL fixed-effect β; UK Biobank: SD of
|
| 72 |
+
Lp(a)). Most rows are between 0.005 and 0.2 per copy.
|
| 73 |
+
* **Tier B rows** — `weight = −ln(OR) × copies` for coronary heart disease, capped to [−3, 3]
|
| 74 |
+
(the PCSK9 nonsense homozygote rows hit the cap).
|
| 75 |
+
|
| 76 |
+
A summed "net weight" across this module is dominated by about a thousand tiny Tier A rows. It is **not**
|
| 77 |
+
a validated polygenic score and is not comparable with any other module. The `weighting:` block in
|
| 78 |
+
`module_spec.yaml` says the same.
|
| 79 |
+
|
| 80 |
+
## What this module does not duplicate
|
| 81 |
+
|
| 82 |
+
The ClinVar **cardio** module (just_dna_seq/cardio 2.0.0) already reports ClinVar pathogenic and
|
| 83 |
+
likely-pathogenic variants for monogenic familial hypercholesterolaemia (*LDLR*, *LDLRAP1*). None of
|
| 84 |
+
those rsIDs is authored here (all 1,062 candidates were checked against its 37,901 rsIDs; no overlap was
|
| 85 |
+
found), and *APOB*/*PCSK9* gain-of-function FH variants are not added. Read the two modules together.
|
| 86 |
+
|
| 87 |
+
## Limits
|
| 88 |
+
|
| 89 |
+
* GWAS effects are averages from mostly European samples (1.32 M of 1.65 M in GLGC; 273 k of 284 k
|
| 90 |
+
in the Lp(a) study). Frequencies quoted in conclusions are estimated from the study's allele
|
| 91 |
+
frequency under Hardy–Weinberg proportions.
|
| 92 |
+
* 124 strand-ambiguous (A/T, C/G) Tier A SNPs were kept because their effect-allele frequency is
|
| 93 |
+
outside 0.40–0.60 and the GWAS Catalog harmonised GRCh38 file reports them on the forward strand
|
| 94 |
+
(harmonisation codes 1, 2, 5 or 6); no gnomAD frequency table was produced in this enrichment run, so
|
| 95 |
+
this orientation is not independently confirmed (provisional). 21 others were dropped.
|
| 96 |
+
* 24 indels were dropped because the study's allele spelling did not match the Ensembl GRCh38 record.
|
| 97 |
+
* Lp(a) per-variant effects are conditional on each other and on nearby variants and should not be
|
| 98 |
+
added up as if independent.
|
| 99 |
+
* Conclusions were written from templates for the Tier A rows; the module-voice lay-reader and
|
| 100 |
+
scientific reviews have not been run yet.
|
| 101 |
+
|
| 102 |
+
## Sources
|
| 103 |
+
|
| 104 |
+
Graham SE et al. *The power of genetic diversity in genome-wide association studies of lipids.*
|
| 105 |
+
Nature 2021 (PMID 34887591; Supplementary Table 5 = `41586_2021_4064_MOESM4_ESM.xlsx`, sheet
|
| 106 |
+
"ST.5 Multiancestry Results"; GWAS Catalog GCST90239649/55/61). Sinnott-Armstrong N et al. *Genetics of
|
| 107 |
+
35 blood and urine biomarkers in the UK Biobank.* Nat Genet 2021 (PMID 33462484; GCST90019513). Tier B
|
| 108 |
+
papers as in the table above. Searches for 2023–2026 lipid, ApoB and Lp(a) GWAS (PubMed, Europe PMC,
|
| 109 |
+
web) found no larger multi-ancestry LDL-C/TG meta-analysis with a published index-variant table; the
|
| 110 |
+
2025 GLGC review (PMID 39602359) summarises the consortium's results as over 923 loci from more than
|
| 111 |
+
1.65 million individuals, i.e. the 2021 study used here.
|
| 112 |
+
|
| 113 |
+
## Changelog
|
| 114 |
+
|
| 115 |
+
* **2.0.0** (2026-11-03, AI-assisted) — tiered evidence rebuild (Tier A GWAS, Tier B functional,
|
| 116 |
+
legacy kept), `weighting:` declared, authorship recorded.
|
| 117 |
+
* 1.1.0 — Olga Borysova's expert-curated module (15 variants).
|
| 118 |
+
|
| 119 |
+
## Evidence tiers
|
| 120 |
+
|
| 121 |
+
Every variant carries an evidence tier in `flags` (`tier:S` … `tier:D`) and in `priority`
|
| 122 |
+
(S = high, A = medium, B/C/D = low). The tier never changes `weight`. Most variants in this module are
|
| 123 |
+
weak signals, so the top tier is **S**, kept for the few variants that matter on their own. New (2026) rows
|
| 124 |
+
also start their conclusion with the tier's label.
|
| 125 |
+
|
| 126 |
+
| Tier | Meaning | Variants (of which legacy) |
|
| 127 |
+
|---|---|---|
|
| 128 |
+
| S | Strong evidence: an effect large enough to matter on its own (OR/HR ≥ 1.5 or ≤ 0.67, or ≥ 0.5 SD), robustly supported | 10 (1) |
|
| 129 |
+
| A | Well established, small effect (research grade): genome-wide significant in the anchor GWAS and in ≥ 1 further publication, same direction | 341 (11) |
|
| 130 |
+
| B | Single-study signal, small effect (research grade): genome-wide significant in the anchor GWAS only | 711 (3) |
|
| 131 |
+
| C | Early evidence (research only): not genome-wide significant for this trait | 0 (0) |
|
| 132 |
+
| D | Not supported: contradicted, or null in large GWAS / meta-analysis | 0 (0) |
|
| 133 |
+
|
| 134 |
+
S holds the variants that move a lipid by half a standard deviation or more, or change coronary risk by 1.5-fold or more: APOE ε2, the PCSK9 and APOC3 loss-of-function alleles and the main LPA variants. Replication was read from the GWAS Catalog (REST v2, retrieved 2026-11-03; cohorts of different
|
| 135 |
+
publications may overlap). `also_in:<module>` marks the 29 variants that also appear in another just-dna
|
| 136 |
+
module. Summing weights across modules counts those twice. The rules are adapted from the Longevity Map v2
|
| 137 |
+
requirements (`docs/longevitymap_v2/`).
|
| 138 |
+
|
| 139 |
+
## Corrections to the original expert-curated rows
|
| 140 |
+
|
| 141 |
+
The 2026 audit of the Generation I content (Supplementary Table S14 of the Just-DNA-Lite paper) found errors that were still present in v1.1.0. Version 2.0.0 corrects them, changing only the cell that was wrong. Each change is recorded with its reason in `provenance.json` and `logs/authoring.log`.
|
| 142 |
+
|
| 143 |
+
| Variant | Genotype | Field | What was wrong |
|
| 144 |
+
|---|---|---|---|
|
| 145 |
+
| rs429358 | C/T | conclusion | the conclusion ended mid-sentence ('Some studies') |
|
| 146 |
+
|
| 147 |
+
### Gene column for GWAS rows
|
| 148 |
+
|
| 149 |
+
The GWAS index variants' gene cell names the HGNC gene the variant lies in (33 variants), or the nearest HGNC protein-coding gene when it is within 100 kb (13 variants, flag `gene:nearest`). Otherwise the cell is blank (28 variants), with the nearest gene and its distance in `flags` (`nearest_gene:`, `nearest_kb:`). Neither is a claim that the gene causes the effect. The anchor study's own label is kept as `gwas_label:`.
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data/lipidmetabolism/frequencies.parquet
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data/lipidmetabolism/logs/authoring.log
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2026-11-04T07:36:42Z authored rs429358 conclusion='C/T: You are a carrier of unfavourable C-allele in rs429358, which ia a part of e4 APOE genotype estimation. If your genotype also harbors the...' (judged; no value from the row's own conclusion and the module's other genotype rows to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
|
| 2 |
+
2026-11-04T08:45:30Z authored rs1883783 gene='SSBP3' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
|
| 3 |
+
2026-11-04T08:45:32Z authored rs186538116 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 4 |
+
2026-11-04T08:45:35Z authored rs115292790 gene='STXBP3' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 5 |
+
2026-11-04T08:45:37Z authored rs1689797 gene='LINC01344' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+
2026-11-04T08:45:40Z authored rs1689801 gene='LINC01344' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+
2026-11-04T08:45:45Z authored rs1434282 gene='LINC01221' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 8 |
+
2026-11-04T08:45:47Z authored rs59770119 gene='LYPLAL1-AS1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 9 |
+
2026-11-04T08:45:49Z authored rs508293 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 10 |
+
2026-11-04T08:45:54Z authored rs553427 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 11 |
+
2026-11-04T08:45:56Z authored rs557933 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 12 |
+
2026-11-04T08:45:58Z authored rs11679703 gene='LINC00299' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 13 |
+
2026-11-04T08:46:01Z authored rs759257847 gene='LINC01808' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 14 |
+
2026-11-04T08:46:04Z authored rs114040256 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 15 |
+
2026-11-04T08:46:19Z authored rs1883783 gene='SSBP3' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
|
| 16 |
+
2026-11-04T08:46:21Z authored rs186538116 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
|
| 17 |
+
2026-11-04T08:46:23Z authored rs115292790 gene='STXBP3' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
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| 18 |
+
2026-11-04T08:46:26Z authored rs1689797 gene='LINC01344' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
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| 19 |
+
2026-11-04T08:46:28Z authored rs1689801 gene='LINC01344' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
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| 20 |
+
2026-11-04T08:46:30Z authored rs1434282 gene='LINC01221' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
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| 21 |
+
2026-11-04T08:46:32Z authored rs59770119 gene='LYPLAL1-AS1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
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| 22 |
+
2026-11-04T08:46:35Z authored rs508293 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
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| 23 |
+
2026-11-04T08:46:37Z authored rs553427 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
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| 24 |
+
2026-11-04T08:46:39Z authored rs557933 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
|
| 25 |
+
2026-11-04T08:46:42Z authored rs11679703 gene='LINC00299' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
|
| 26 |
+
2026-11-04T08:46:44Z authored rs759257847 gene='LINC01808' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
|
| 27 |
+
2026-11-04T08:46:46Z authored rs114040256 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false [replaced an earlier record]
|
| 28 |
+
2026-11-04T08:46:49Z authored rs191450029 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
|
| 29 |
+
2026-11-04T08:46:51Z authored rs116500366 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 30 |
+
2026-11-04T08:46:53Z authored rs4665495 gene='LINC01830' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 31 |
+
2026-11-04T08:46:57Z authored rs11889451 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 32 |
+
2026-11-04T08:47:00Z authored rs17050272 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 33 |
+
2026-11-04T08:47:02Z authored rs954244 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 34 |
+
2026-11-04T08:47:05Z authored rs11688682 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 35 |
+
2026-11-04T08:47:07Z authored rs563563230 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 36 |
+
2026-11-04T08:47:10Z authored rs6430090 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
|
| 37 |
+
2026-11-04T08:47:12Z authored rs7571848 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
|
| 38 |
+
2026-11-04T08:47:15Z authored rs2203452 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 39 |
+
2026-11-04T08:47:17Z authored rs2972145 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
|
| 40 |
+
2026-11-04T08:47:20Z authored rs9831084 gene='EPM2AIP1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
|
| 41 |
+
2026-11-04T08:47:23Z authored rs79287178 gene='LINC02068' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 42 |
+
2026-11-04T08:47:26Z authored rs71610255 gene='USP53' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 43 |
+
2026-11-04T08:47:28Z authored rs26008 gene='FNIP1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 44 |
+
2026-11-04T08:47:30Z authored rs11167778 gene='SPRY4-AS1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 45 |
+
2026-11-04T08:47:33Z authored rs6924805 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 46 |
+
2026-11-04T08:47:35Z authored rs12189754 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 47 |
+
2026-11-04T08:47:38Z authored rs635769 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 48 |
+
2026-11-04T08:47:41Z authored rs17585887 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 49 |
+
2026-11-04T08:47:43Z authored rs36126113 gene='LINC02941' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 50 |
+
2026-11-04T08:47:45Z authored rs2283038 gene='HBP1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 51 |
+
2026-11-04T08:47:47Z authored rs2921064 gene='LINC02950' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 52 |
+
2026-11-04T08:47:50Z authored rs4739514 gene='LINC01605' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 53 |
+
2026-11-04T08:47:52Z authored rs9298506 gene='RP1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 54 |
+
2026-11-04T08:47:55Z authored rs6471886 gene='LINC01301' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 55 |
+
2026-11-04T08:47:57Z authored rs400824 gene='ZBTB10' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 56 |
+
2026-11-04T08:48:00Z authored rs6473280 gene='FABP4' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 57 |
+
2026-11-04T08:48:02Z authored rs1561929 gene='LINC00824' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 58 |
+
2026-11-04T08:48:04Z authored rs2773513 gene='GLDC' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 59 |
+
2026-11-04T08:48:06Z authored rs10961056 gene='LINC01235' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 60 |
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2026-11-04T08:48:09Z authored rs1590404 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 61 |
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2026-11-04T08:48:11Z authored rs543458 gene='NFIB' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 62 |
+
2026-11-04T08:48:13Z authored rs7864568 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 63 |
+
2026-11-04T08:48:16Z authored rs11789974 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 64 |
+
2026-11-04T08:48:19Z authored rs72619338 gene='RXRA' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 65 |
+
2026-11-04T08:48:21Z authored rs10827239 gene='NRP1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 66 |
+
2026-11-04T08:48:23Z authored rs4934932 gene='NRP1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 67 |
+
2026-11-04T08:48:26Z authored rs776902938 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 68 |
+
2026-11-04T08:48:29Z authored rs117288140 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 69 |
+
2026-11-04T08:48:32Z authored rs11045171 gene='PDE3A' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 70 |
+
2026-11-04T08:48:34Z authored rs11045172 gene='PDE3A' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 71 |
+
2026-11-04T08:48:37Z authored rs7132434 gene='SSPN-AS1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 72 |
+
2026-11-04T08:48:40Z authored rs275179 gene='LINC02694' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 73 |
+
2026-11-04T08:48:42Z authored rs6493583 gene='LINC02490' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 74 |
+
2026-11-04T08:48:45Z authored rs11636087 gene='USP3' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 75 |
+
2026-11-04T08:48:48Z authored rs2469128 gene='LINC01169' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 76 |
+
2026-11-04T08:48:50Z authored rs145437104 gene='RABEP1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 77 |
+
2026-11-04T08:48:53Z authored rs2008998 gene='MIR4733HG' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 78 |
+
2026-11-04T08:48:55Z authored rs525767 gene='LASP1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 79 |
+
2026-11-04T08:48:58Z authored rs11650182 gene='SKAP1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 80 |
+
2026-11-04T08:49:01Z authored rs28394864 gene='ZNF652-AS1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 81 |
+
2026-11-04T08:49:03Z authored rs41292412 gene='MIR122' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 82 |
+
2026-11-04T08:49:06Z authored rs6567160 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 83 |
+
2026-11-04T08:49:08Z authored rs1135908 gene='PTBP1' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 84 |
+
2026-11-04T08:49:11Z authored rs572546175 gene='LINC03078' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 85 |
+
2026-11-04T08:49:14Z authored rs4810280 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 86 |
+
2026-11-04T08:49:17Z authored rs4811348 gene='LINC01524' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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+
2026-11-04T08:49:19Z authored rs12106385 gene='(blank)' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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| 88 |
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2026-11-04T08:49:22Z authored rs4822458 gene='DDT' (judged; no value from Ensembl REST overlap/region, GRCh38, queried 2026-11-04 to disagree with) by=AI agent (just-module-creator), 2026 rebuild human_reviewed=false
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data/lipidmetabolism/manifest.json
CHANGED
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@@ -2,11 +2,11 @@
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|
| 2 |
"manifest_version": "1.0",
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| 3 |
"schema_version": "1.0",
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| 4 |
"identity": {
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| 5 |
-
"namespace":
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| 6 |
"name": "lipidmetabolism",
|
| 7 |
-
"version": "
|
| 8 |
"version_coerced_from": null,
|
| 9 |
-
"canonical_id":
|
| 10 |
},
|
| 11 |
"display": {
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| 12 |
"title": "Lipid Metabolism",
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|
@@ -21,100 +21,980 @@
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|
| 21 |
"method": "expert-curated",
|
| 22 |
"license": null,
|
| 23 |
"authority_precedence": [],
|
| 24 |
-
"weighting":
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| 25 |
-
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| 26 |
"authors": [],
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| 27 |
-
"authorship": [
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| 28 |
"created_at": null,
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| 29 |
-
"published_at":
|
| 30 |
"stats": {
|
| 31 |
-
"variant_count":
|
| 32 |
-
"weights_rows":
|
| 33 |
-
"study_count":
|
| 34 |
-
"gene_count":
|
| 35 |
"genes": [
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| 36 |
"ABCG8",
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| 37 |
"APOB",
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| 38 |
"APOC3",
|
| 39 |
"APOE",
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| 40 |
"CELSR2",
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| 41 |
"CETP",
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| 42 |
"HNF1A-AS1",
|
| 43 |
"HNF4A",
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| 44 |
"LPL",
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| 45 |
"PCIF1",
|
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| 46 |
"RAB11B",
|
| 47 |
-
"
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| 48 |
],
|
| 49 |
-
"categories": [],
|
| 50 |
"clinvar_count": 0,
|
| 51 |
"pathogenic_count": 0,
|
| 52 |
"benign_count": 0
|
| 53 |
},
|
| 54 |
"compilation": {
|
| 55 |
"compile_success": true,
|
| 56 |
-
"compiled_by":
|
| 57 |
-
"compiler_version": "just-dna-compiler 0.7.
|
| 58 |
-
"ensembl_reference":
|
| 59 |
-
"compiled_at": "2026-
|
| 60 |
"warnings": [
|
| 61 |
-
"
|
|
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|
| 62 |
],
|
| 63 |
-
"carried": [],
|
| 64 |
"warnings_summary": {
|
| 65 |
-
"
|
| 66 |
},
|
| 67 |
"dropped_rows": {},
|
| 68 |
"resolution_mode": "strict",
|
| 69 |
"fully_resolved": true,
|
| 70 |
-
"resolution_subjects":
|
| 71 |
"expanded_keys": 0,
|
| 72 |
"expanded_rows": 0,
|
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-
"resolution_signature": "sha256:
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"resolution_sources": [
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"cache"
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],
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"vrs_alleles":
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-
"vrs_alleles_identified":
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"positional_rows": 0,
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"positional_rows_placed": 0
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},
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"gene_metrics": null,
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"gene_validity": null,
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-
"quotes_unchecked":
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},
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"sources": {
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"signature": "sha256:
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"sources": [
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],
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"layers": [
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"resolution"
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],
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"licenses": [
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"Apache-2.0"
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],
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"attributions": [
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"Ensembl (https://www.ensembl.org)"
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],
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"notices": [],
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"unknown_terms_sources": [],
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@@ -124,37 +1004,19 @@
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],
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"commercial_use": true,
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"redistribution": true,
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"row_count":
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},
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"verification": {
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"signature": "sha256:
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"module_hash": "sha256:
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"producer": "just-dna-enricher 0.7.
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"produced_at": "2026-
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"closure":
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"checks": [
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{
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"check": "citation_existence",
|
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"subjects": 37,
|
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"findings": 0,
|
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"skipped": null,
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"detail": null,
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"source": "pubmed",
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"release": null,
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"checked_at": "2026-09-26T17:35:11Z",
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"producer": "just-dna-enricher 0.7.2"
|
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-
},
|
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-
{
|
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"check": "citation_identifier",
|
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"subjects": 0,
|
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-
"findings": 0,
|
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-
"skipped": "nothing_to_check",
|
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-
"detail": "none of 37 citation(s) carries an authored DOI or PMC id, so there was nothing to compare against PubMed's own",
|
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-
"source": "pubmed",
|
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-
"release": null,
|
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"checked_at": "2026-09-26T17:35:11Z",
|
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-
"producer": "just-dna-enricher 0.7.2"
|
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-
},
|
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{
|
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"check": "clinical_significance",
|
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"subjects": 0,
|
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@@ -163,8 +1025,8 @@
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"detail": null,
|
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"source": "clinvar",
|
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"release": "clinvar_2026-06-27",
|
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"checked_at": "2026-
|
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-
"producer": "just-dna-enricher 0.7.
|
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},
|
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{
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"check": "dataset_currency",
|
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@@ -174,8 +1036,8 @@
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"detail": "the module records no release, so it makes no claim about where its rows came from",
|
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"source": null,
|
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"release": null,
|
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-
"checked_at": "2026-
|
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"producer": "just-dna-enricher 0.7.
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},
|
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{
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"check": "evidence_status_currency",
|
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@@ -185,8 +1047,8 @@
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"detail": "this module records no citation drafted from CIViC's API, so there is no recorded curation status to re-ask about",
|
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"source": "civic",
|
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"release": null,
|
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-
"checked_at": "2026-
|
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-
"producer": "just-dna-enricher 0.7.
|
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},
|
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{
|
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"check": "genome_build_agreement",
|
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@@ -196,19 +1058,8 @@
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"detail": "the GRCh37 service is the only thing that can tell an old-assembly coordinate from a wrong ref, and there is no local GRCh37 data",
|
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"source": "ensembl-grch37",
|
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"release": null,
|
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-
"checked_at": "2026-
|
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"producer": "just-dna-enricher 0.7.
|
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-
},
|
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-
{
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-
"check": "provenance_quote",
|
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-
"subjects": 0,
|
| 205 |
-
"findings": 0,
|
| 206 |
-
"skipped": "nothing_to_check",
|
| 207 |
-
"detail": "no provenance quote or regex on any citation, so none of them asked this question",
|
| 208 |
-
"source": "europepmc",
|
| 209 |
-
"release": null,
|
| 210 |
-
"checked_at": "2026-09-26T17:35:11Z",
|
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-
"producer": "just-dna-enricher 0.7.2"
|
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},
|
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{
|
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"check": "published_refutation",
|
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@@ -218,19 +1069,19 @@
|
|
| 218 |
"detail": "no authored direction sits beside a published refutation (basis accepted)",
|
| 219 |
"source": "civic",
|
| 220 |
"release": "civic_01-Sep-2026",
|
| 221 |
-
"checked_at": "2026-
|
| 222 |
-
"producer": "just-dna-enricher 0.7.
|
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},
|
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{
|
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"check": "reference_allele",
|
| 226 |
-
"subjects":
|
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"findings": 0,
|
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-
"skipped":
|
| 229 |
-
"detail":
|
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"source": "seqrepo",
|
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"release": null,
|
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-
"checked_at": "2026-
|
| 233 |
-
"producer": "just-dna-enricher 0.7.
|
| 234 |
},
|
| 235 |
{
|
| 236 |
"check": "rsid_coordinate_agreement",
|
|
@@ -240,62 +1091,67 @@
|
|
| 240 |
"detail": "no row authors both an rsID and a coordinate, so the module makes no pair claim to compare — this is not a comparison that found nothing",
|
| 241 |
"source": "ensembl",
|
| 242 |
"release": null,
|
| 243 |
-
"checked_at": "2026-
|
| 244 |
-
"producer": "just-dna-enricher 0.7.
|
| 245 |
},
|
| 246 |
{
|
| 247 |
"check": "rsid_currency",
|
| 248 |
-
"subjects":
|
| 249 |
"findings": 0,
|
| 250 |
-
"skipped":
|
| 251 |
"detail": null,
|
| 252 |
"source": "dbsnp",
|
| 253 |
"release": null,
|
| 254 |
-
"checked_at": "2026-
|
| 255 |
-
"producer": "just-dna-enricher 0.7.
|
| 256 |
}
|
| 257 |
]
|
| 258 |
},
|
| 259 |
"inputs": [
|
| 260 |
{
|
| 261 |
"name": "module_spec.yaml",
|
| 262 |
-
"sha256": "sha256:
|
| 263 |
-
"size":
|
| 264 |
},
|
| 265 |
{
|
| 266 |
"name": "variants.csv",
|
| 267 |
-
"sha256": "sha256:
|
| 268 |
-
"size":
|
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},
|
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{
|
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"name": "studies.csv",
|
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-
"sha256": "sha256:
|
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-
"size":
|
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}
|
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],
|
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-
"content_signature": "sha256:
|
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"artifact": {
|
| 278 |
-
"digest": "sha256:
|
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"files": [
|
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{
|
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"name": "weights.parquet",
|
| 282 |
-
"sha256": "sha256:
|
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-
"size":
|
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},
|
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{
|
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"name": "annotations.parquet",
|
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-
"sha256": "sha256:
|
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-
"size":
|
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},
|
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{
|
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"name": "studies.parquet",
|
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"sha256": "sha256:
|
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-
"size":
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},
|
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{
|
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"name": "literature.parquet",
|
| 297 |
-
"sha256": "sha256:
|
| 298 |
-
"size":
|
| 299 |
},
|
| 300 |
{
|
| 301 |
"name": "clin_sig_concordance.parquet",
|
|
@@ -309,33 +1165,38 @@
|
|
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},
|
| 310 |
{
|
| 311 |
"name": "sources.parquet",
|
| 312 |
-
"sha256": "sha256:
|
| 313 |
-
"size":
|
| 314 |
}
|
| 315 |
]
|
| 316 |
},
|
| 317 |
"logs": [
|
| 318 |
{
|
| 319 |
-
"name": "
|
| 320 |
-
"sha256": "sha256:
|
| 321 |
-
"size":
|
| 322 |
}
|
| 323 |
],
|
| 324 |
"derived": [
|
| 325 |
{
|
| 326 |
"name": "resolution.csv",
|
| 327 |
-
"sha256": "sha256:
|
| 328 |
-
"size":
|
| 329 |
},
|
| 330 |
{
|
| 331 |
"name": "verification.json",
|
| 332 |
-
"sha256": "sha256:
|
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-
"size":
|
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|
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},
|
| 335 |
{
|
| 336 |
"name": "literature.csv",
|
| 337 |
-
"sha256": "sha256:
|
| 338 |
-
"size":
|
| 339 |
},
|
| 340 |
{
|
| 341 |
"name": "clin_sig_concordance.csv",
|
|
@@ -349,17 +1210,28 @@
|
|
| 349 |
},
|
| 350 |
{
|
| 351 |
"name": "licensing.csv",
|
| 352 |
-
"sha256": "sha256:
|
| 353 |
-
"size":
|
| 354 |
}
|
| 355 |
],
|
| 356 |
-
"provenance":
|
|
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|
| 357 |
"panel": null,
|
| 358 |
"logo": {
|
| 359 |
"name": "logo.png",
|
| 360 |
"sha256": "sha256:69e427216214e32b56a106216bf1c9fb23f62241d7ed7817d8852338bd34d249",
|
| 361 |
"size": 106316
|
| 362 |
},
|
| 363 |
-
"readme":
|
|
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|
| 364 |
"signature": null
|
| 365 |
}
|
|
|
|
| 2 |
"manifest_version": "1.0",
|
| 3 |
"schema_version": "1.0",
|
| 4 |
"identity": {
|
| 5 |
+
"namespace": null,
|
| 6 |
"name": "lipidmetabolism",
|
| 7 |
+
"version": "2.0.0",
|
| 8 |
"version_coerced_from": null,
|
| 9 |
+
"canonical_id": null
|
| 10 |
},
|
| 11 |
"display": {
|
| 12 |
"title": "Lipid Metabolism",
|
|
|
|
| 21 |
"method": "expert-curated",
|
| 22 |
"license": null,
|
| 23 |
"authority_precedence": [],
|
| 24 |
+
"weighting": {
|
| 25 |
+
"scale": "Mixed, by row group (see the method column). (1) Legacy rows (method expert-curated, curator just-dna-seq; Olga Borysova): curator-set values in [-3, 3], unchanged from v1.1.0. (2) Tier A GWAS rows (method 'gwas-index-beta' / 'gwas-conditional-beta'): weight = -beta x copies of the effect allele, beta in standard-deviation units of the trait per allele (LDL-C or triglycerides from Graham et al. 2021, PMID 34887591; Lp(a) from Sinnott-Armstrong et al. 2021, PMID 33462484); homozygous for the other allele = 0.0 (neutral). Typical magnitude 0.005-0.5 per row. (3) Tier B functional rows (method 'published-OR'): weight = -ln(OR) per copy of the effect allele for coronary heart disease from the cited study (het = -ln OR, hom = -2 ln OR, other = 0.0), capped to [-3, 3]. Positive = favourable (lower LDL-C / triglycerides / Lp(a) or lower CHD risk); negative = risk.",
|
| 26 |
+
"method": "Tier A: every conditionally independent multi-ancestry index variant (p < 5e-8, MR-MEGA) for LDL-C or triglycerides in GLGC 2021 Supplementary Table 5 (independent = yes), plus HDL-C index variants only where the same variant reaches p < 5e-8 for LDL-C or triglycerides in the GLGC multi-ancestry summary statistics (GWAS Catalog GCST90239655 / GCST90239661) or for ApoB in any GWAS Catalog association; the weight uses the LDL-C or triglyceride beta with the larger absolute value (both reported in studies.csv). Lp(a): the 21 conditionally independent genome-wide significant variants mapped to LPA in GWAS Catalog GCST90019513 (rs3798220 moved to Tier B). Tier B: PCSK9 (R46L, Y142X, C679X), APOC3 (R19X, IVS2+1G>A, IVS3+1G>T, A43T), LPA (rs10455872, rs3798220) and CETP (IVS14+1G>A) with published coronary odds/hazard ratios. Where a GWAS lead equals a legacy rsID, Olga Borysova's rows are kept and the GWAS evidence is added to studies.csv only.",
|
| 27 |
+
"note": "Not comparable with any other module's weights, and the three row groups are on different scales inside this module: a Tier A row is a per-allele shift of a blood lipid in SD units, a Tier B row is a log odds ratio for heart disease, and legacy rows are curator-set. A summed net weight is dominated by the ~1,000 small Tier A rows and is not a validated polygenic score; use a published PGS (e.g. the GLGC LDL-C scores in the PGS Catalog) for that purpose."
|
| 28 |
+
},
|
| 29 |
+
"owner": null,
|
| 30 |
"authors": [],
|
| 31 |
+
"authorship": [
|
| 32 |
+
{
|
| 33 |
+
"who": "Olga Borysova",
|
| 34 |
+
"role": "created",
|
| 35 |
+
"kind": [
|
| 36 |
+
"human_expert"
|
| 37 |
+
],
|
| 38 |
+
"at": null
|
| 39 |
+
},
|
| 40 |
+
{
|
| 41 |
+
"who": "just-dna-seq rebuild agent (AI-assisted, 2026)",
|
| 42 |
+
"role": "edited",
|
| 43 |
+
"kind": [
|
| 44 |
+
"ai",
|
| 45 |
+
"agent"
|
| 46 |
+
],
|
| 47 |
+
"at": "2026-11-03"
|
| 48 |
+
}
|
| 49 |
+
],
|
| 50 |
"created_at": null,
|
| 51 |
+
"published_at": null,
|
| 52 |
"stats": {
|
| 53 |
+
"variant_count": 1062,
|
| 54 |
+
"weights_rows": 3186,
|
| 55 |
+
"study_count": 1102,
|
| 56 |
+
"gene_count": 832,
|
| 57 |
"genes": [
|
| 58 |
+
"A1CF",
|
| 59 |
+
"ABCA1",
|
| 60 |
+
"ABCA6",
|
| 61 |
+
"ABCA8",
|
| 62 |
+
"ABCB11",
|
| 63 |
+
"ABCB4",
|
| 64 |
"ABCG8",
|
| 65 |
+
"ABHD15",
|
| 66 |
+
"ABO",
|
| 67 |
+
"ABRACL",
|
| 68 |
+
"ACAA2",
|
| 69 |
+
"ACACB",
|
| 70 |
+
"ACO1",
|
| 71 |
+
"ACTB",
|
| 72 |
+
"ACTRT2",
|
| 73 |
+
"ACVR1",
|
| 74 |
+
"ACVR1C",
|
| 75 |
+
"ADAM15",
|
| 76 |
+
"ADAMTS3",
|
| 77 |
+
"ADCY5",
|
| 78 |
+
"ADD1",
|
| 79 |
+
"ADGRV1",
|
| 80 |
+
"ADH4",
|
| 81 |
+
"ADPGK-AS1",
|
| 82 |
+
"ADRB1",
|
| 83 |
+
"ADTRP",
|
| 84 |
+
"AFF1",
|
| 85 |
+
"AGBL4",
|
| 86 |
+
"AGPAT4",
|
| 87 |
+
"AGPAT5",
|
| 88 |
+
"AHR",
|
| 89 |
+
"AKNA",
|
| 90 |
+
"AKR1C4",
|
| 91 |
+
"ALDH1A2",
|
| 92 |
+
"ALKBH5",
|
| 93 |
+
"ANGPTL4",
|
| 94 |
+
"ANGPTL8",
|
| 95 |
+
"ANKRD17",
|
| 96 |
+
"ANKRD28",
|
| 97 |
+
"ANO3",
|
| 98 |
+
"ANXA9",
|
| 99 |
+
"AOC1",
|
| 100 |
"APOB",
|
| 101 |
+
"APOC1",
|
| 102 |
"APOC3",
|
| 103 |
"APOE",
|
| 104 |
+
"APOH",
|
| 105 |
+
"APOL3",
|
| 106 |
+
"APOL6",
|
| 107 |
+
"APPL2",
|
| 108 |
+
"ARCN1",
|
| 109 |
+
"AREG",
|
| 110 |
+
"ARFGEF2",
|
| 111 |
+
"ARHGAP10",
|
| 112 |
+
"ARHGEF15",
|
| 113 |
+
"ARHGEF19",
|
| 114 |
+
"ARHGEF19-AS1",
|
| 115 |
+
"ARID1A",
|
| 116 |
+
"ARID2",
|
| 117 |
+
"ARID5B",
|
| 118 |
+
"ARL15",
|
| 119 |
+
"ARMC2",
|
| 120 |
+
"ARNILA",
|
| 121 |
+
"ARNT",
|
| 122 |
+
"ARSG",
|
| 123 |
+
"ASAP3",
|
| 124 |
+
"ASGR1",
|
| 125 |
+
"ATF1",
|
| 126 |
+
"ATG4C",
|
| 127 |
+
"ATP2B4",
|
| 128 |
+
"ATP8B1",
|
| 129 |
+
"ATXN2",
|
| 130 |
+
"AURKB",
|
| 131 |
+
"AVPR1A",
|
| 132 |
+
"AXL",
|
| 133 |
+
"B4GALNT3",
|
| 134 |
+
"B4GALNT4",
|
| 135 |
+
"BACE2",
|
| 136 |
+
"BAHD1",
|
| 137 |
+
"BAIAP2L1",
|
| 138 |
+
"BANF2",
|
| 139 |
+
"BANP",
|
| 140 |
+
"BCAS1",
|
| 141 |
+
"BCKDK",
|
| 142 |
+
"BCL2",
|
| 143 |
+
"BCL2L11",
|
| 144 |
+
"BDNF",
|
| 145 |
+
"BDNF-AS",
|
| 146 |
+
"BEND3",
|
| 147 |
+
"BICD2",
|
| 148 |
+
"BICRAL",
|
| 149 |
+
"BISPR",
|
| 150 |
+
"BLMH",
|
| 151 |
+
"BMAL1",
|
| 152 |
+
"BMF",
|
| 153 |
+
"BMP7",
|
| 154 |
+
"BMPR2",
|
| 155 |
+
"BNC2",
|
| 156 |
+
"BPTF",
|
| 157 |
+
"BRD1",
|
| 158 |
+
"BTD",
|
| 159 |
+
"C10orf88",
|
| 160 |
+
"C2",
|
| 161 |
+
"C2orf42",
|
| 162 |
+
"C4orf17",
|
| 163 |
+
"C5orf67",
|
| 164 |
+
"CACNA1A",
|
| 165 |
+
"CACNA2D1",
|
| 166 |
+
"CACUL1",
|
| 167 |
+
"CADM1",
|
| 168 |
+
"CADPS",
|
| 169 |
+
"CAMKMT",
|
| 170 |
+
"CAND2",
|
| 171 |
+
"CARINH",
|
| 172 |
+
"CARMIL1",
|
| 173 |
+
"CASC15",
|
| 174 |
+
"CASC17",
|
| 175 |
+
"CATSPER2P1",
|
| 176 |
+
"CAVIN1",
|
| 177 |
+
"CCDC106",
|
| 178 |
+
"CCDC170",
|
| 179 |
+
"CCDC200",
|
| 180 |
+
"CCDC63",
|
| 181 |
+
"CCDC77",
|
| 182 |
+
"CCDC92",
|
| 183 |
+
"CCND1",
|
| 184 |
+
"CCND2",
|
| 185 |
+
"CD300LG",
|
| 186 |
+
"CDCA2",
|
| 187 |
+
"CDKAL1",
|
| 188 |
+
"CDKN1A",
|
| 189 |
+
"CDKN2B-AS1",
|
| 190 |
+
"CEBPG",
|
| 191 |
"CELSR2",
|
| 192 |
+
"CEP164",
|
| 193 |
+
"CEP68",
|
| 194 |
+
"CERT1",
|
| 195 |
+
"CES1",
|
| 196 |
"CETP",
|
| 197 |
+
"CFAP251",
|
| 198 |
+
"CFL1",
|
| 199 |
+
"CFL2",
|
| 200 |
+
"CFTR",
|
| 201 |
+
"CHEK2",
|
| 202 |
+
"CHLSN",
|
| 203 |
+
"CIBAR2",
|
| 204 |
+
"CLDN23",
|
| 205 |
+
"CLEC14A",
|
| 206 |
+
"CLLU1-AS1",
|
| 207 |
+
"CMIP",
|
| 208 |
+
"CMTM6",
|
| 209 |
+
"CNIH4",
|
| 210 |
+
"CNKSR1",
|
| 211 |
+
"COBLL1",
|
| 212 |
+
"COG2",
|
| 213 |
+
"COG5",
|
| 214 |
+
"COL18A1",
|
| 215 |
+
"COL25A1",
|
| 216 |
+
"COL27A1",
|
| 217 |
+
"COL4A2",
|
| 218 |
+
"COL6A1",
|
| 219 |
+
"COLEC11",
|
| 220 |
+
"COLEC12",
|
| 221 |
+
"COMT",
|
| 222 |
+
"CORO1C",
|
| 223 |
+
"COX16",
|
| 224 |
+
"COX4I2",
|
| 225 |
+
"CPEB2",
|
| 226 |
+
"CPEB4",
|
| 227 |
+
"CPT1A",
|
| 228 |
+
"CREB3L2",
|
| 229 |
+
"CREB3L3",
|
| 230 |
+
"CRPPA",
|
| 231 |
+
"CRYZL2P-SEC16B",
|
| 232 |
+
"CSF1",
|
| 233 |
+
"CSMD1",
|
| 234 |
+
"CSNK1G3",
|
| 235 |
+
"CSNK2A1",
|
| 236 |
+
"CTCFL",
|
| 237 |
+
"CUX2",
|
| 238 |
+
"CXCL1",
|
| 239 |
+
"CYB5B",
|
| 240 |
+
"CYP26A1",
|
| 241 |
+
"CYP26B1",
|
| 242 |
+
"CYP2A6",
|
| 243 |
+
"CYP4F12",
|
| 244 |
+
"CYP7A1",
|
| 245 |
+
"CYRIA",
|
| 246 |
+
"CYSTM1",
|
| 247 |
+
"CYTL1",
|
| 248 |
+
"DAB1",
|
| 249 |
+
"DCAF12",
|
| 250 |
+
"DCP2",
|
| 251 |
+
"DCT",
|
| 252 |
+
"DDT",
|
| 253 |
+
"DDX19A-DT",
|
| 254 |
+
"DDX46",
|
| 255 |
+
"DDX56",
|
| 256 |
+
"DENND4C",
|
| 257 |
+
"DENND6B",
|
| 258 |
+
"DGKQ",
|
| 259 |
+
"DHODH",
|
| 260 |
+
"DHPS",
|
| 261 |
+
"DIP2B",
|
| 262 |
+
"DIXDC1",
|
| 263 |
+
"DLC1",
|
| 264 |
+
"DLEU1",
|
| 265 |
+
"DLG4",
|
| 266 |
+
"DMGDH",
|
| 267 |
+
"DMRT2",
|
| 268 |
+
"DMTN",
|
| 269 |
+
"DNAH1",
|
| 270 |
+
"DNAH11",
|
| 271 |
+
"DNAH12",
|
| 272 |
+
"DNAJC13",
|
| 273 |
+
"DNAJC16",
|
| 274 |
+
"DNAJC17",
|
| 275 |
+
"DNM3",
|
| 276 |
+
"DNMT1",
|
| 277 |
+
"DOCK6",
|
| 278 |
+
"DOCK7",
|
| 279 |
+
"DPYD",
|
| 280 |
+
"DR1",
|
| 281 |
+
"DRAIC",
|
| 282 |
+
"DSTYK",
|
| 283 |
+
"E2F3",
|
| 284 |
+
"EBF1",
|
| 285 |
+
"EEPD1",
|
| 286 |
+
"EFNA1",
|
| 287 |
+
"EGF",
|
| 288 |
+
"EHBP1",
|
| 289 |
+
"EIF4E",
|
| 290 |
+
"ELAVL1",
|
| 291 |
+
"ELF1",
|
| 292 |
+
"EMILIN2",
|
| 293 |
+
"EML3",
|
| 294 |
+
"ENTPD6",
|
| 295 |
+
"EPM2AIP1",
|
| 296 |
+
"ERGIC2",
|
| 297 |
+
"ERGIC3",
|
| 298 |
+
"ERICH2",
|
| 299 |
+
"ERLIN1",
|
| 300 |
+
"ETNK1-DT",
|
| 301 |
+
"EVI5",
|
| 302 |
+
"EVI5L",
|
| 303 |
+
"EYA1",
|
| 304 |
+
"EYA2",
|
| 305 |
+
"EYA3",
|
| 306 |
+
"FABP4",
|
| 307 |
+
"FADS1",
|
| 308 |
+
"FAF1",
|
| 309 |
+
"FAM117B",
|
| 310 |
+
"FAM13A",
|
| 311 |
+
"FAM228A",
|
| 312 |
+
"FARP2",
|
| 313 |
+
"FASN",
|
| 314 |
+
"FBLN1",
|
| 315 |
+
"FBRSL1",
|
| 316 |
+
"FBXL17",
|
| 317 |
+
"FBXW10",
|
| 318 |
+
"FCGR2C",
|
| 319 |
+
"FCGRT",
|
| 320 |
+
"FENDRR",
|
| 321 |
+
"FER1L4",
|
| 322 |
+
"FFAR4",
|
| 323 |
+
"FGB",
|
| 324 |
+
"FGF21",
|
| 325 |
+
"FGFR1",
|
| 326 |
+
"FGFR4",
|
| 327 |
+
"FIZ1",
|
| 328 |
+
"FLACC1",
|
| 329 |
+
"FLT1",
|
| 330 |
+
"FN1",
|
| 331 |
+
"FNBP1L",
|
| 332 |
+
"FNIP1",
|
| 333 |
+
"FOXA3",
|
| 334 |
+
"FOXN3",
|
| 335 |
+
"FRK",
|
| 336 |
+
"FRY",
|
| 337 |
+
"FST",
|
| 338 |
+
"FTO",
|
| 339 |
+
"FUT2",
|
| 340 |
+
"FUT3",
|
| 341 |
+
"FZD2",
|
| 342 |
+
"GAB2",
|
| 343 |
+
"GABBR1",
|
| 344 |
+
"GADD45G",
|
| 345 |
+
"GALK1",
|
| 346 |
+
"GALNT2",
|
| 347 |
+
"GALNT4",
|
| 348 |
+
"GALNT6",
|
| 349 |
+
"GAREM1",
|
| 350 |
+
"GAS6",
|
| 351 |
+
"GATA4",
|
| 352 |
+
"GATA6",
|
| 353 |
+
"GBF1",
|
| 354 |
+
"GC",
|
| 355 |
+
"GCC2",
|
| 356 |
+
"GCK",
|
| 357 |
+
"GCKR",
|
| 358 |
+
"GEN1",
|
| 359 |
+
"GIGYF1",
|
| 360 |
+
"GIMAP7",
|
| 361 |
+
"GLDC",
|
| 362 |
+
"GLP2R",
|
| 363 |
+
"GLTPD2",
|
| 364 |
+
"GPAM",
|
| 365 |
+
"GPCPD1",
|
| 366 |
+
"GPIHBP1",
|
| 367 |
+
"GPR180",
|
| 368 |
+
"GRIK2",
|
| 369 |
+
"GRIK4",
|
| 370 |
+
"GRM4",
|
| 371 |
+
"GSTA12P",
|
| 372 |
+
"GSTA2",
|
| 373 |
+
"GSTM5",
|
| 374 |
+
"HAVCR1",
|
| 375 |
+
"HAX1",
|
| 376 |
+
"HBP1",
|
| 377 |
+
"HBS1L",
|
| 378 |
+
"HCAR1",
|
| 379 |
+
"HCG20",
|
| 380 |
+
"HDGFL2",
|
| 381 |
+
"HDHD5",
|
| 382 |
+
"HEATR5A",
|
| 383 |
+
"HELZ",
|
| 384 |
+
"HERC1",
|
| 385 |
+
"HFM1",
|
| 386 |
+
"HGFAC",
|
| 387 |
+
"HIC1",
|
| 388 |
+
"HK1",
|
| 389 |
+
"HLA-A",
|
| 390 |
+
"HLA-B",
|
| 391 |
+
"HLA-DQA1",
|
| 392 |
+
"HLA-DQB1",
|
| 393 |
+
"HLA-DRB5",
|
| 394 |
+
"HLMR1",
|
| 395 |
+
"HMGN1",
|
| 396 |
+
"HMGXB4",
|
| 397 |
+
"HNF1A",
|
| 398 |
"HNF1A-AS1",
|
| 399 |
"HNF4A",
|
| 400 |
+
"HORMAD2",
|
| 401 |
+
"HOXB3",
|
| 402 |
+
"HPN",
|
| 403 |
+
"HPR",
|
| 404 |
+
"HSPA4",
|
| 405 |
+
"HTT",
|
| 406 |
+
"IDE",
|
| 407 |
+
"IFT80",
|
| 408 |
+
"IGF1",
|
| 409 |
+
"IGF2R",
|
| 410 |
+
"IKZF3",
|
| 411 |
+
"IL10RA",
|
| 412 |
+
"IL1RN",
|
| 413 |
+
"IL38",
|
| 414 |
+
"ILRUN",
|
| 415 |
+
"INHBA",
|
| 416 |
+
"INKILN",
|
| 417 |
+
"INPP4B",
|
| 418 |
+
"INPP5A",
|
| 419 |
+
"INSIG1-DT",
|
| 420 |
+
"INSIG2",
|
| 421 |
+
"INSR",
|
| 422 |
+
"IRAG1",
|
| 423 |
+
"IRS1",
|
| 424 |
+
"ITCH",
|
| 425 |
+
"ITGA1",
|
| 426 |
+
"ITGB6",
|
| 427 |
+
"ITIH3",
|
| 428 |
+
"JAZF1",
|
| 429 |
+
"JMJD1C",
|
| 430 |
+
"JMY",
|
| 431 |
+
"KAT5",
|
| 432 |
+
"KBTBD8",
|
| 433 |
+
"KCNJ2",
|
| 434 |
+
"KCNK17",
|
| 435 |
+
"KCNK3",
|
| 436 |
+
"KCNU1",
|
| 437 |
+
"KDM4B",
|
| 438 |
+
"KDSR",
|
| 439 |
+
"KIF13B",
|
| 440 |
+
"KLF12",
|
| 441 |
+
"KLF13",
|
| 442 |
+
"KLF14",
|
| 443 |
+
"KLF15",
|
| 444 |
+
"KLF2-DT",
|
| 445 |
+
"KLHDC7A",
|
| 446 |
+
"KLHL31",
|
| 447 |
+
"KMT2E",
|
| 448 |
+
"KMT5A",
|
| 449 |
+
"KPNB1",
|
| 450 |
+
"KRAS",
|
| 451 |
+
"KRT78",
|
| 452 |
+
"L3MBTL3",
|
| 453 |
+
"LAMB1",
|
| 454 |
+
"LAMC1",
|
| 455 |
+
"LASP1",
|
| 456 |
+
"LCORL",
|
| 457 |
+
"LCTL",
|
| 458 |
+
"LDLR",
|
| 459 |
+
"LEPR",
|
| 460 |
+
"LGR6",
|
| 461 |
+
"LHCGR",
|
| 462 |
+
"LILRA5",
|
| 463 |
+
"LINC00243",
|
| 464 |
+
"LINC00299",
|
| 465 |
+
"LINC00466",
|
| 466 |
+
"LINC00511",
|
| 467 |
+
"LINC00824",
|
| 468 |
+
"LINC00880",
|
| 469 |
+
"LINC01091",
|
| 470 |
+
"LINC01122",
|
| 471 |
+
"LINC01153",
|
| 472 |
+
"LINC01169",
|
| 473 |
+
"LINC01221",
|
| 474 |
+
"LINC01235",
|
| 475 |
+
"LINC01301",
|
| 476 |
+
"LINC01344",
|
| 477 |
+
"LINC01524",
|
| 478 |
+
"LINC01605",
|
| 479 |
+
"LINC01808",
|
| 480 |
+
"LINC01830",
|
| 481 |
+
"LINC02068",
|
| 482 |
+
"LINC02490",
|
| 483 |
+
"LINC02603",
|
| 484 |
+
"LINC02694",
|
| 485 |
+
"LINC02941",
|
| 486 |
+
"LINC02950",
|
| 487 |
+
"LINC03078",
|
| 488 |
+
"LINGO2",
|
| 489 |
+
"LIPA",
|
| 490 |
+
"LIPG",
|
| 491 |
+
"LITAF",
|
| 492 |
+
"LMAN1L",
|
| 493 |
+
"LMF1",
|
| 494 |
+
"LNROP",
|
| 495 |
+
"LNX1",
|
| 496 |
+
"LPA",
|
| 497 |
+
"LPAR1",
|
| 498 |
+
"LPAR5",
|
| 499 |
"LPL",
|
| 500 |
+
"LRBA",
|
| 501 |
+
"LRMDA",
|
| 502 |
+
"LRRK2-DT",
|
| 503 |
+
"LYPLAL1-AS1",
|
| 504 |
+
"LYZ",
|
| 505 |
+
"LZTS1",
|
| 506 |
+
"MACO1",
|
| 507 |
+
"MAF",
|
| 508 |
+
"MAFB",
|
| 509 |
+
"MAFF",
|
| 510 |
+
"MAFTRR",
|
| 511 |
+
"MAGOH3P",
|
| 512 |
+
"MAP1A",
|
| 513 |
+
"MAP3K4",
|
| 514 |
+
"MAP3K6",
|
| 515 |
+
"MAPK10",
|
| 516 |
+
"MAPK8IP1",
|
| 517 |
+
"MARCHF8",
|
| 518 |
+
"MARCO",
|
| 519 |
+
"MARK2",
|
| 520 |
+
"MBD3L1",
|
| 521 |
+
"MBL2",
|
| 522 |
+
"MBTD1",
|
| 523 |
+
"MC4R",
|
| 524 |
+
"MCC",
|
| 525 |
+
"MCM6",
|
| 526 |
+
"MEGF9",
|
| 527 |
+
"MEIS1",
|
| 528 |
+
"MET",
|
| 529 |
+
"MGA",
|
| 530 |
+
"MGAT5",
|
| 531 |
+
"MGRN1",
|
| 532 |
+
"MICAL3",
|
| 533 |
+
"MIDEAS",
|
| 534 |
+
"MIMS1",
|
| 535 |
+
"MIMT1",
|
| 536 |
+
"MIR122",
|
| 537 |
+
"MIR4733HG",
|
| 538 |
+
"MISO1",
|
| 539 |
+
"MITF",
|
| 540 |
+
"MLXIPL",
|
| 541 |
+
"MLYCD",
|
| 542 |
+
"MMAB",
|
| 543 |
+
"MON2",
|
| 544 |
+
"MPPED2",
|
| 545 |
+
"MSI2",
|
| 546 |
+
"MSRA-DT",
|
| 547 |
+
"MTARC1",
|
| 548 |
+
"MTSS1",
|
| 549 |
+
"MTTP",
|
| 550 |
+
"MTUS1",
|
| 551 |
+
"MUC2",
|
| 552 |
+
"MYBL2",
|
| 553 |
+
"MYCT1",
|
| 554 |
+
"MYLIP",
|
| 555 |
+
"NAT2",
|
| 556 |
+
"NCDN",
|
| 557 |
+
"NDC1",
|
| 558 |
+
"NDRG2",
|
| 559 |
+
"NECTIN1-DT",
|
| 560 |
+
"NEDD4L",
|
| 561 |
+
"NEGR1",
|
| 562 |
+
"NEO1",
|
| 563 |
+
"NFAT5",
|
| 564 |
+
"NFE2L3",
|
| 565 |
+
"NFIA",
|
| 566 |
+
"NFIB",
|
| 567 |
+
"NIBAN1",
|
| 568 |
+
"NINL",
|
| 569 |
+
"NIPSNAP1",
|
| 570 |
+
"NKX3-1",
|
| 571 |
+
"NOSTRIN",
|
| 572 |
+
"NPC1",
|
| 573 |
+
"NR1H3",
|
| 574 |
+
"NR1H4",
|
| 575 |
+
"NR1I2",
|
| 576 |
+
"NR5A2",
|
| 577 |
+
"NRDC",
|
| 578 |
+
"NRL",
|
| 579 |
+
"NRP1",
|
| 580 |
+
"NRXN3",
|
| 581 |
+
"NSD1",
|
| 582 |
+
"NTSR1",
|
| 583 |
+
"NUCKS1",
|
| 584 |
+
"NUDT3",
|
| 585 |
+
"NXPH1",
|
| 586 |
+
"NYNRIN",
|
| 587 |
+
"OIT3",
|
| 588 |
+
"OPRL1",
|
| 589 |
+
"OR51A5P",
|
| 590 |
+
"OR8J1",
|
| 591 |
+
"OTUD7B",
|
| 592 |
+
"P2RX3",
|
| 593 |
+
"PABPC4",
|
| 594 |
+
"PACRG",
|
| 595 |
+
"PALM3",
|
| 596 |
+
"PARP6",
|
| 597 |
+
"PATL2",
|
| 598 |
+
"PCBP1-AS1",
|
| 599 |
+
"PCCB",
|
| 600 |
"PCIF1",
|
| 601 |
+
"PCM1",
|
| 602 |
+
"PCNPP2",
|
| 603 |
+
"PCSK5",
|
| 604 |
+
"PCSK6",
|
| 605 |
+
"PCSK9",
|
| 606 |
+
"PDE3A",
|
| 607 |
+
"PDE3B",
|
| 608 |
+
"PDE4C",
|
| 609 |
+
"PDGFC",
|
| 610 |
+
"PDGFD",
|
| 611 |
+
"PDXDC1",
|
| 612 |
+
"PEMT",
|
| 613 |
+
"PEPD",
|
| 614 |
+
"PEX6",
|
| 615 |
+
"PGS1",
|
| 616 |
+
"PHC1",
|
| 617 |
+
"PHF11",
|
| 618 |
+
"PID1",
|
| 619 |
+
"PIK3R1",
|
| 620 |
+
"PINX1",
|
| 621 |
+
"PKD2L1",
|
| 622 |
+
"PKN3",
|
| 623 |
+
"PLA2G12A",
|
| 624 |
+
"PLA2G12B",
|
| 625 |
+
"PLA2G3",
|
| 626 |
+
"PLA2G6",
|
| 627 |
+
"PLCE1",
|
| 628 |
+
"PLD1",
|
| 629 |
+
"PLEC",
|
| 630 |
+
"PLEKHG1",
|
| 631 |
+
"PLIN1",
|
| 632 |
+
"PLXND1",
|
| 633 |
+
"PNKD",
|
| 634 |
+
"PNLIPRP2",
|
| 635 |
+
"PNPLA3",
|
| 636 |
+
"POC5",
|
| 637 |
+
"POLR1HASP",
|
| 638 |
+
"POR",
|
| 639 |
+
"PPARG",
|
| 640 |
+
"PPIF",
|
| 641 |
+
"PPM1A",
|
| 642 |
+
"PPP1R13B",
|
| 643 |
+
"PPP1R3B-DT",
|
| 644 |
+
"PPP2R2A",
|
| 645 |
+
"PPP4R1",
|
| 646 |
+
"PPP5C",
|
| 647 |
+
"PPP6R2",
|
| 648 |
+
"PRDM1",
|
| 649 |
+
"PRKAG1",
|
| 650 |
+
"PRKAG3",
|
| 651 |
+
"PRKAR2B",
|
| 652 |
+
"PRKCE",
|
| 653 |
+
"PRKN",
|
| 654 |
+
"PRMT6",
|
| 655 |
+
"PROX2",
|
| 656 |
+
"PRSS38",
|
| 657 |
+
"PSG3",
|
| 658 |
+
"PSKH1",
|
| 659 |
+
"PSMD12",
|
| 660 |
+
"PSMG1",
|
| 661 |
+
"PTBP1",
|
| 662 |
+
"PTEN",
|
| 663 |
+
"PTGER3",
|
| 664 |
+
"PTPN3",
|
| 665 |
+
"PTPRJ",
|
| 666 |
+
"PXK",
|
| 667 |
+
"QARS1",
|
| 668 |
+
"QKI",
|
| 669 |
+
"QRICH2",
|
| 670 |
+
"R3HDM2",
|
| 671 |
+
"RAB10",
|
| 672 |
"RAB11B",
|
| 673 |
+
"RAB1A",
|
| 674 |
+
"RAB21",
|
| 675 |
+
"RABEP1",
|
| 676 |
+
"RAPGEF3",
|
| 677 |
+
"RBBP5",
|
| 678 |
+
"RBFADN",
|
| 679 |
+
"RBMS2",
|
| 680 |
+
"RCN3",
|
| 681 |
+
"RER1",
|
| 682 |
+
"RETREG3",
|
| 683 |
+
"RFLNA",
|
| 684 |
+
"RFX4",
|
| 685 |
+
"RGS17",
|
| 686 |
+
"RIC8B",
|
| 687 |
+
"RIGI",
|
| 688 |
+
"RILPL2",
|
| 689 |
+
"RMI1",
|
| 690 |
+
"RN7SL140P",
|
| 691 |
+
"RNA5SP69",
|
| 692 |
+
"RNF111",
|
| 693 |
+
"RNF150",
|
| 694 |
+
"RNF157",
|
| 695 |
+
"RNF168",
|
| 696 |
+
"RNF212B",
|
| 697 |
+
"RNU6-200P",
|
| 698 |
+
"ROR1",
|
| 699 |
+
"RORA",
|
| 700 |
+
"RP1",
|
| 701 |
+
"RPH3A",
|
| 702 |
+
"RPL31",
|
| 703 |
+
"RPL31P12",
|
| 704 |
+
"RPSAP52",
|
| 705 |
+
"RRAGC",
|
| 706 |
+
"RRBP1",
|
| 707 |
+
"RREB1",
|
| 708 |
+
"RSPO3",
|
| 709 |
+
"RTRAF",
|
| 710 |
+
"RXRA",
|
| 711 |
+
"SACS",
|
| 712 |
+
"SARM1",
|
| 713 |
+
"SBNO1",
|
| 714 |
+
"SCAF4",
|
| 715 |
+
"SCARB1",
|
| 716 |
+
"SCCPDH",
|
| 717 |
+
"SEC16A",
|
| 718 |
+
"SECISBP2L",
|
| 719 |
+
"SERPINA1",
|
| 720 |
+
"SERTAD2",
|
| 721 |
+
"SESN1",
|
| 722 |
+
"SETBP1",
|
| 723 |
+
"SETD5",
|
| 724 |
+
"SF3B4",
|
| 725 |
+
"SH2D4A",
|
| 726 |
+
"SH3YL1",
|
| 727 |
+
"SHROOM3",
|
| 728 |
+
"SIM1",
|
| 729 |
+
"SIPA1",
|
| 730 |
+
"SIPA1L3",
|
| 731 |
+
"SKAP1",
|
| 732 |
+
"SKI",
|
| 733 |
+
"SLC12A2",
|
| 734 |
+
"SLC12A2-DT",
|
| 735 |
+
"SLC12A4",
|
| 736 |
+
"SLC16A9",
|
| 737 |
+
"SLC17A2",
|
| 738 |
+
"SLC25A19",
|
| 739 |
+
"SLC25A29",
|
| 740 |
+
"SLC25A30",
|
| 741 |
+
"SLC25A31",
|
| 742 |
+
"SLC26A2",
|
| 743 |
+
"SLC2A2",
|
| 744 |
+
"SLC33A1",
|
| 745 |
+
"SLC39A8",
|
| 746 |
+
"SLC67A1",
|
| 747 |
+
"SLC9B1",
|
| 748 |
+
"SLCO1B1",
|
| 749 |
+
"SMAD3",
|
| 750 |
+
"SMAD7",
|
| 751 |
+
"SMIM14-DT",
|
| 752 |
+
"SMIM20",
|
| 753 |
+
"SNX10",
|
| 754 |
+
"SNX11",
|
| 755 |
+
"SNX13",
|
| 756 |
+
"SNX14",
|
| 757 |
+
"SNX27",
|
| 758 |
+
"SNX8",
|
| 759 |
+
"SORCS2",
|
| 760 |
+
"SORL1",
|
| 761 |
+
"SOS2",
|
| 762 |
+
"SP1",
|
| 763 |
+
"SPATA20",
|
| 764 |
+
"SPDYE7P",
|
| 765 |
+
"SPON1",
|
| 766 |
+
"SPRY4",
|
| 767 |
+
"SPRY4-AS1",
|
| 768 |
+
"SPTA1",
|
| 769 |
+
"SPTLC3",
|
| 770 |
+
"SPTY2D1",
|
| 771 |
+
"SSBP3",
|
| 772 |
+
"SSH1",
|
| 773 |
+
"SSPN",
|
| 774 |
+
"SSPN-AS1",
|
| 775 |
+
"ST13",
|
| 776 |
+
"ST3GAL4",
|
| 777 |
+
"STAB1",
|
| 778 |
+
"STAT5B",
|
| 779 |
+
"STMN1",
|
| 780 |
+
"STX1B",
|
| 781 |
+
"STXBP3",
|
| 782 |
+
"SULT2A1",
|
| 783 |
+
"SUN2",
|
| 784 |
+
"SYNE2",
|
| 785 |
+
"SYTL1",
|
| 786 |
+
"TAOK2",
|
| 787 |
+
"TBC1D13",
|
| 788 |
+
"TBC1D3JP",
|
| 789 |
+
"TCEA3",
|
| 790 |
+
"TCF12",
|
| 791 |
+
"TESK2",
|
| 792 |
+
"TET2",
|
| 793 |
+
"TF",
|
| 794 |
+
"TFG",
|
| 795 |
+
"THADA",
|
| 796 |
+
"THNSL2",
|
| 797 |
+
"THOC1-DT",
|
| 798 |
+
"THOP1",
|
| 799 |
+
"THRB",
|
| 800 |
+
"TM4SF5",
|
| 801 |
+
"TM6SF2",
|
| 802 |
+
"TMEM106B",
|
| 803 |
+
"TMEM147",
|
| 804 |
+
"TMEM175",
|
| 805 |
+
"TMEM59L",
|
| 806 |
+
"TMEM70",
|
| 807 |
+
"TMPRSS11E",
|
| 808 |
+
"TMPRSS5",
|
| 809 |
+
"TMPRSS6",
|
| 810 |
+
"TNFAIP8",
|
| 811 |
+
"TNKS",
|
| 812 |
+
"TNKS2",
|
| 813 |
+
"TNPO1",
|
| 814 |
+
"TP53",
|
| 815 |
+
"TPM1",
|
| 816 |
+
"TPRA1",
|
| 817 |
+
"TRAM2-AS1",
|
| 818 |
+
"TRANK1",
|
| 819 |
+
"TRIB1AL",
|
| 820 |
+
"TRIM2",
|
| 821 |
+
"TRIM31",
|
| 822 |
+
"TRIM5",
|
| 823 |
+
"TRMU",
|
| 824 |
+
"TRPS1",
|
| 825 |
+
"TSC22D2",
|
| 826 |
+
"TSHZ2",
|
| 827 |
+
"TTC38",
|
| 828 |
+
"TTC39B",
|
| 829 |
+
"TUBD1",
|
| 830 |
+
"TULP1",
|
| 831 |
+
"TXNDC11",
|
| 832 |
+
"UBASH3B",
|
| 833 |
+
"UBE2E2",
|
| 834 |
+
"UBE2L3",
|
| 835 |
+
"UBE3B",
|
| 836 |
+
"UGT1A1",
|
| 837 |
+
"UGT1A11P",
|
| 838 |
+
"UGT2B10",
|
| 839 |
+
"UGT2B15",
|
| 840 |
+
"UGT2B25P",
|
| 841 |
+
"UNC5CL",
|
| 842 |
+
"USP3",
|
| 843 |
+
"USP39",
|
| 844 |
+
"USP53",
|
| 845 |
+
"VCAN",
|
| 846 |
+
"VEGFA",
|
| 847 |
+
"VEGFB",
|
| 848 |
+
"VGLL3",
|
| 849 |
+
"VIM",
|
| 850 |
+
"VLDLR",
|
| 851 |
+
"VN1R1",
|
| 852 |
+
"VN1R11P",
|
| 853 |
+
"VPS53",
|
| 854 |
+
"WDR20",
|
| 855 |
+
"WDR72",
|
| 856 |
+
"WDR81",
|
| 857 |
+
"XPO1",
|
| 858 |
+
"XRN1",
|
| 859 |
+
"YLPM1",
|
| 860 |
+
"ZBTB10",
|
| 861 |
+
"ZBTB41",
|
| 862 |
+
"ZC3H11B",
|
| 863 |
+
"ZC3H4",
|
| 864 |
+
"ZCCHC8",
|
| 865 |
+
"ZDHHC18",
|
| 866 |
+
"ZDHHC24",
|
| 867 |
+
"ZFHX3",
|
| 868 |
+
"ZFP28-DT",
|
| 869 |
+
"ZFPM1",
|
| 870 |
+
"ZFPM2",
|
| 871 |
+
"ZHX3",
|
| 872 |
+
"ZNF148",
|
| 873 |
+
"ZNF160",
|
| 874 |
+
"ZNF283",
|
| 875 |
+
"ZNF285",
|
| 876 |
+
"ZNF329",
|
| 877 |
+
"ZNF341",
|
| 878 |
+
"ZNF385B",
|
| 879 |
+
"ZNF404",
|
| 880 |
+
"ZNF423",
|
| 881 |
+
"ZNF487",
|
| 882 |
+
"ZNF652-AS1",
|
| 883 |
+
"ZNF746",
|
| 884 |
+
"ZNF76",
|
| 885 |
+
"ZNF800",
|
| 886 |
+
"ZNF846",
|
| 887 |
+
"ZPR1",
|
| 888 |
+
"ZRANB3",
|
| 889 |
+
"ZSCAN23"
|
| 890 |
+
],
|
| 891 |
+
"categories": [
|
| 892 |
+
"Functional / high-impact variant (Tier B)",
|
| 893 |
+
"LDL cholesterol (GWAS index variant)",
|
| 894 |
+
"Lipoprotein(a) (GWAS independent variant)",
|
| 895 |
+
"Triglycerides (GWAS index variant)"
|
| 896 |
],
|
|
|
|
| 897 |
"clinvar_count": 0,
|
| 898 |
"pathogenic_count": 0,
|
| 899 |
"benign_count": 0
|
| 900 |
},
|
| 901 |
"compilation": {
|
| 902 |
"compile_success": true,
|
| 903 |
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"compiled_by": null,
|
| 904 |
+
"compiler_version": "just-dna-compiler 0.7.2",
|
| 905 |
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"ensembl_reference": null,
|
| 906 |
+
"compiled_at": "2026-11-04T09:01:31Z",
|
| 907 |
"warnings": [
|
| 908 |
+
"VRS allele identity covers 1745/1750 allele(s) in resolution.csv (100%) — 5 carry no ga4gh:VA. id. Anything keying on the VA sees only the covered fraction.",
|
| 909 |
+
" 5 allele(s): an indel or MNV: justification needs the reference sequence, so only the enricher can mint it (re-run it online)"
|
| 910 |
+
],
|
| 911 |
+
"carried": [
|
| 912 |
+
"VRS allele identity covers 1745/1750 allele(s) in resolution.csv (100%) — 5 carry no ga4gh:VA. id. Anything keying on the VA sees only the covered fraction.",
|
| 913 |
+
" 5 allele(s): an indel or MNV: justification needs the reference sequence, so only the enricher can mint it (re-run it online)"
|
| 914 |
],
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|
|
|
| 915 |
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|
| 916 |
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"vrs_coverage_incomplete": 2
|
| 917 |
},
|
| 918 |
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|
| 919 |
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|
| 920 |
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|
| 921 |
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|
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|
| 923 |
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|
| 924 |
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"resolution_signature": "sha256:0b11116334606c147116e6b644013dd9e317df5fa24534e987b1b368e58de8d2",
|
| 925 |
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|
| 926 |
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|
| 927 |
],
|
| 928 |
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"vrs_alleles": 1750,
|
| 929 |
+
"vrs_alleles_identified": 1745,
|
| 930 |
"positional_rows": 0,
|
| 931 |
"positional_rows_placed": 0
|
| 932 |
},
|
| 933 |
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"frequency": {
|
| 934 |
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"signature": "sha256:b5eced295ef864a9f41ffcb5a033bdb0995ca6ed704128c7fab74d0e74330105",
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| 935 |
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"sources": [
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"gnomad"
|
| 937 |
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],
|
| 938 |
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"datasets": [
|
| 939 |
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"gnomad_v4.1_joint"
|
| 940 |
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],
|
| 941 |
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"populations": [
|
| 942 |
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"global",
|
| 943 |
+
"afr",
|
| 944 |
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"ami",
|
| 945 |
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"amr",
|
| 946 |
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"asj",
|
| 947 |
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"eas",
|
| 948 |
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"fin",
|
| 949 |
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"mid",
|
| 950 |
+
"nfe",
|
| 951 |
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"remaining",
|
| 952 |
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"sas"
|
| 953 |
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],
|
| 954 |
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"row_count": 15000,
|
| 955 |
+
"variant_count": 1750
|
| 956 |
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},
|
| 957 |
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|
| 958 |
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|
| 959 |
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|
| 960 |
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|
| 961 |
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|
| 962 |
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|
| 963 |
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"signature": "sha256:4b87a6a95b0224dd8b6b7768c06f7249e98edffc7ae14bab9e784d61710f66cb",
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| 964 |
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| 965 |
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|
| 966 |
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|
| 967 |
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|
| 968 |
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|
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|
| 970 |
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|
| 971 |
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|
| 972 |
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|
| 973 |
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|
| 974 |
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|
| 975 |
},
|
| 976 |
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|
| 977 |
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|
| 978 |
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"signature": "sha256:9a8b8fd5943172acf8898b6828e361cc677fca41edd1371fa301624d18f76b7b",
|
| 979 |
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| 980 |
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|
| 981 |
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|
| 982 |
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|
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"frequency",
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| 985 |
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|
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