antonkulaga commited on
Commit
1aa85d5
·
verified ·
1 Parent(s): 2c29dae

Add superhuman module

Browse files
data/superhuman/annotations.parquet CHANGED
@@ -1,3 +1,3 @@
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  version https://git-lfs.github.com/spec/v1
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data/superhuman/manifest.json CHANGED
@@ -2,201 +2,63 @@
2
  "manifest_version": "1.0",
3
  "schema_version": "1.0",
4
  "identity": {
5
- "namespace": "just-dna-seq",
6
- "name": "superhuman",
7
- "version": "2.4.0",
8
  "version_coerced_from": null,
9
- "canonical_id": "just-dna-seq/superhuman@2.4.0"
10
  },
11
  "display": {
12
- "title": "Superhuman",
13
- "description": "Elite performance and rare beneficial variants",
14
- "report_title": "Superhuman / Elite Performance",
15
- "icon": "zap",
16
  "icon_set": "fomantic",
17
- "color": "#00b5ad"
18
  },
19
  "genome_build": "GRCh38",
20
- "curator": "just-dna-seq",
21
- "method": "expert-curated",
22
  "license": null,
23
  "authority_precedence": [],
24
  "weighting": null,
25
- "owner": "just-dna-seq",
26
  "authors": [],
27
  "authorship": [],
28
  "created_at": null,
29
- "published_at": "2026-09-26T23:45:05Z",
30
  "stats": {
31
- "variant_count": 74,
32
- "weights_rows": 99,
33
- "study_count": 74,
34
- "gene_count": 28,
35
- "genes": [
36
- "ABCC11",
37
- "APOA2",
38
- "APOE",
39
- "APOL1",
40
- "APP",
41
- "BDNF",
42
- "CCR5",
43
- "CETP",
44
- "CFTR",
45
- "COMT",
46
- "FAAH",
47
- "FUT2",
48
- "GHR",
49
- "GRIK4",
50
- "HSD17B13",
51
- "IFIH1",
52
- "IL23R",
53
- "LRP5",
54
- "MSTN",
55
- "NPSR1",
56
- "NTRK1",
57
- "PCSK9",
58
- "PDE10A",
59
- "PRNP",
60
- "RIMS1",
61
- "SCN9A",
62
- "SLC30A8",
63
- "TPH2"
64
- ],
65
  "categories": [],
66
  "clinvar_count": 0,
67
  "pathogenic_count": 0,
68
  "benign_count": 0
69
  },
70
  "compilation": {
71
- "compile_success": true,
72
- "compiled_by": "marketplace-server",
73
- "compiler_version": "just-dna-compiler 0.7.0",
74
- "ensembl_reference": "just-dna-seq/ensembl_variations",
75
- "compiled_at": "2026-09-26T23:45:05Z",
76
- "warnings": [
77
- "3 allele(s): vrs_id could not be verified — CT>C is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1363364803, rs1553473041, rs1571699945).",
78
- "2 allele(s): vrs_id could not be verified — AA>A is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs537509888 allele A, rs587783021 allele A).",
79
- "2 allele(s): vrs_id could not be verified — AA>AAA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs537509888 allele AAA, rs587783021 allele AAA).",
80
- "1 allele(s): vrs_id could not be verified — A>AA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs142802827).",
81
- "1 allele(s): vrs_id could not be verified — A>AAGA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs555947867).",
82
- "1 allele(s): vrs_id could not be verified — AA>AAAA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs537509888 allele AAAA).",
83
- "1 allele(s): vrs_id could not be verified — AACTTA>A is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs766212849 allele A).",
84
- "1 allele(s): vrs_id could not be verified — AACTTA>AACTTAACTTA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs766212849 allele AACTTAACTTA).",
85
- "1 allele(s): vrs_id could not be verified — ACAG>A is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1558104865).",
86
- "1 allele(s): vrs_id could not be verified — AG>A is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1655825221).",
87
- "1 allele(s): vrs_id could not be verified — CA>C is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1799770).",
88
- "1 allele(s): vrs_id could not be verified — CG>C is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1648170217).",
89
- "1 allele(s): vrs_id could not be verified — CTG>C is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs398122810).",
90
- "1 allele(s): vrs_id could not be verified — GA>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1553478584).",
91
- "1 allele(s): vrs_id could not be verified — GCCCGAGAGCATCCTGTACCGTAAGTTC>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs756614200).",
92
- "1 allele(s): vrs_id could not be verified — GGGTGTCTGCGCCT>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1571696060).",
93
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele G).",
94
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTG).",
95
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTG).",
96
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTG).",
97
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTG).",
98
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTG).",
99
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTG).",
100
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTG).",
101
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTG).",
102
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTG).",
103
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTG).",
104
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTG).",
105
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
106
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
107
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
108
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
109
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
110
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
111
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
112
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
113
- "1 allele(s): vrs_id could not be verified — T>TT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs886061718).",
114
- "1 allele(s): vrs_id could not be verified — TA>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1574856736).",
115
- "1 allele(s): vrs_id could not be verified — TC>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs80356675).",
116
- "1 allele(s): vrs_id could not be verified — TT>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs201958591 allele T).",
117
- "1 allele(s): vrs_id could not be verified — TT>TTT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs201958591 allele TTT).",
118
- "1 allele(s): vrs_id could not be verified — TTAAAAAAGTTT>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs145255931 allele T).",
119
- "1 allele(s): vrs_id could not be verified — TTAAAAAAGTTT>TTAAAAAAGTTTTAAAAAAGTTT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs145255931 allele TTAAAAAAGTTTTAAAAAAGTTT).",
120
- "1 allele(s): vrs_id could not be verified — TTT>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs113359739 allele T).",
121
- "1 allele(s): vrs_id could not be verified — TTT>TT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs113359739 allele TT).",
122
- "1 allele(s): vrs_id could not be verified — TTT>TTTT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs113359739 allele TTTT).",
123
- "VRS allele identity covers 90/111 allele(s) in resolution.csv (81%) — 21 carry no ga4gh:VA. id. Anything keying on the VA sees only the covered fraction.",
124
- " 21 allele(s): an indel or MNV: justification needs the reference sequence, so only the enricher can mint it (re-run it online)",
125
- "This module records no closure: nothing in it states that authoring is finished, so a consumer cannot tell a spec still being edited from one its author considers done. Run `just-dna-compiler close <spec-dir>` when the module is complete — closing is a deliberate act, it is never stamped by a passing check, and editing any authored file afterwards drops the closure again. Compiling without one is a warning today; requiring it is filed for 1.0 (RM73).",
126
- "2 genotype(s) at 1 site(s) have no row: a heterozygous genotype has no row, so a carrier matches nothing in this module. The module states two or more genotypes at each of those sites, so this is a gap in a set the author started rather than a rule that fires once — e.g. rs17822931 C/G; rs17822931 C/T",
127
- "19 genotype(s) at 19 site(s) have no row: the reference homozygote has no row, so a subject carrying neither alternate matches nothing in this module. The module states two or more genotypes at each of those sites, so this is a gap in a set the author started rather than a rule that fires once — e.g. rs11209026 G/G; rs12105165 G/G; rs121908668 G/G (+16 more)"
128
- ],
129
- "carried": [
130
- "3 allele(s): vrs_id could not be verified — CT>C is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1363364803, rs1553473041, rs1571699945).",
131
- "2 allele(s): vrs_id could not be verified — AA>A is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs537509888 allele A, rs587783021 allele A).",
132
- "2 allele(s): vrs_id could not be verified — AA>AAA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs537509888 allele AAA, rs587783021 allele AAA).",
133
- "1 allele(s): vrs_id could not be verified — A>AA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs142802827).",
134
- "1 allele(s): vrs_id could not be verified — A>AAGA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs555947867).",
135
- "1 allele(s): vrs_id could not be verified — AA>AAAA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs537509888 allele AAAA).",
136
- "1 allele(s): vrs_id could not be verified — AACTTA>A is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs766212849 allele A).",
137
- "1 allele(s): vrs_id could not be verified — AACTTA>AACTTAACTTA is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs766212849 allele AACTTAACTTA).",
138
- "1 allele(s): vrs_id could not be verified — ACAG>A is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1558104865).",
139
- "1 allele(s): vrs_id could not be verified — AG>A is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1655825221).",
140
- "1 allele(s): vrs_id could not be verified — CA>C is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1799770).",
141
- "1 allele(s): vrs_id could not be verified — CG>C is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1648170217).",
142
- "1 allele(s): vrs_id could not be verified — CTG>C is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs398122810).",
143
- "1 allele(s): vrs_id could not be verified — GA>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1553478584).",
144
- "1 allele(s): vrs_id could not be verified — GCCCGAGAGCATCCTGTACCGTAAGTTC>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs756614200).",
145
- "1 allele(s): vrs_id could not be verified — GGGTGTCTGCGCCT>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1571696060).",
146
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>G is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele G).",
147
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTG).",
148
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTG).",
149
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTG).",
150
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTG).",
151
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTG).",
152
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTG).",
153
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTG).",
154
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTG).",
155
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTG).",
156
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTG).",
157
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTG).",
158
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
159
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
160
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
161
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
162
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
163
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
164
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
165
- "1 allele(s): vrs_id could not be verified — GTGTGTGTGTGTGTGTGTGTGTG>GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs56185968 allele GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG).",
166
- "1 allele(s): vrs_id could not be verified — T>TT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs886061718).",
167
- "1 allele(s): vrs_id could not be verified — TA>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs1574856736).",
168
- "1 allele(s): vrs_id could not be verified — TC>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs80356675).",
169
- "1 allele(s): vrs_id could not be verified — TT>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs201958591 allele T).",
170
- "1 allele(s): vrs_id could not be verified — TT>TTT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs201958591 allele TTT).",
171
- "1 allele(s): vrs_id could not be verified — TTAAAAAAGTTT>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs145255931 allele T).",
172
- "1 allele(s): vrs_id could not be verified — TTAAAAAAGTTT>TTAAAAAAGTTTTAAAAAAGTTT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs145255931 allele TTAAAAAAGTTTTAAAAAAGTTT).",
173
- "1 allele(s): vrs_id could not be verified — TTT>T is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs113359739 allele T).",
174
- "1 allele(s): vrs_id could not be verified — TTT>TT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs113359739 allele TT).",
175
- "1 allele(s): vrs_id could not be verified — TTT>TTTT is not a single-base substitution, so justifying it needs the reference sequence — minted upstream by the enricher, not recomputable here; carried unverified (rs113359739 allele TTTT).",
176
- "VRS allele identity covers 90/111 allele(s) in resolution.csv (81%) — 21 carry no ga4gh:VA. id. Anything keying on the VA sees only the covered fraction.",
177
- " 21 allele(s): an indel or MNV: justification needs the reference sequence, so only the enricher can mint it (re-run it online)"
178
- ],
179
- "warnings_summary": {
180
- "genotype_coverage_gap": 2,
181
- "module_not_closed": 1,
182
- "vrs_coverage_incomplete": 2,
183
- "vrs_id_unverifiable": 46
184
- },
185
  "dropped_rows": {},
186
- "resolution_mode": "strict",
187
- "fully_resolved": true,
188
- "resolution_subjects": 99,
189
- "expanded_keys": 0,
190
- "expanded_rows": 0,
191
- "resolution_signature": "sha256:b7b1fc2db824bc71b4fc46fa2d87d269c94ff5bee7d965df6e7e9b9abe3cb4e7",
192
- "resolution_sources": [
193
- "cache",
194
- "clinvar"
195
- ],
196
- "vrs_alleles": 111,
197
- "vrs_alleles_identified": 90,
198
- "positional_rows": 0,
199
- "positional_rows_placed": 0
200
  },
201
  "frequency": null,
202
  "gene_metrics": null,
@@ -204,286 +66,21 @@
204
  "clinical_assertions": null,
205
  "gwas_effects": null,
206
  "expression_effects": null,
207
- "literature": {
208
- "signature": "sha256:d7789ba0aea024938db3bc8f24083b2fd4dc8521ba4b6c711279c320a800496e",
209
- "sources": [
210
- "pubmed"
211
- ],
212
- "row_count": 29,
213
- "resolved_count": 29,
214
- "missing_count": 0,
215
- "open_access_count": 6,
216
- "abstract_only_count": 0,
217
- "quotes_authored": 0,
218
- "quotes_found": 0,
219
- "quotes_unchecked": 29
220
- },
221
  "clin_sig_concordance": null,
222
- "sources": {
223
- "signature": "sha256:1aeffee68ca0ea39425f927ca3416f63a1ac6ce4d27462a82a683faaef54a484",
224
- "sources": [
225
- "clinvar",
226
- "ensembl"
227
- ],
228
- "layers": [
229
- "resolution"
230
- ],
231
- "licenses": [
232
- "Apache-2.0",
233
- "public-domain"
234
- ],
235
- "attributions": [
236
- "ClinVar, NCBI (https://www.ncbi.nlm.nih.gov/clinvar/)",
237
- "Ensembl (https://www.ensembl.org)"
238
- ],
239
- "notices": [
240
- "US-government work, no copyright asserted. NCBI asks that ClinVar be cited and states the records are submitter assertions, not a clinical diagnosis."
241
- ],
242
- "share_alike_layers": [],
243
- "noncommercial_layers": [],
244
- "unknown_terms_sources": [],
245
- "nonredistributable_layers": [],
246
- "declared_uses": [
247
- "unstated"
248
- ],
249
- "commercial_use": true,
250
- "redistribution": true,
251
- "row_count": 2
252
- },
253
- "verification": {
254
- "signature": "sha256:d3a428ab0e65192bc9629dbec032a58aaaa6762542d50995283659f5ed05b173",
255
- "module_hash": "sha256:36afef1aa8e8ffaf96b1fc173db59105a5c16314a1cd06df52eb91b1edf8224a",
256
- "producer": "just-dna-enricher 0.7.0",
257
- "produced_at": "2026-09-26T23:45:05Z",
258
- "closure": null,
259
- "checks": [
260
- {
261
- "check": "citation_existence",
262
- "subjects": 29,
263
- "findings": 0,
264
- "skipped": null,
265
- "detail": null,
266
- "source": "pubmed",
267
- "release": null,
268
- "checked_at": "2026-09-26T22:42:19Z",
269
- "producer": "just-dna-enricher 0.7.2"
270
- },
271
- {
272
- "check": "citation_identifier",
273
- "subjects": 0,
274
- "findings": 0,
275
- "skipped": "nothing_to_check",
276
- "detail": "none of 29 citation(s) carries an authored DOI or PMC id, so there was nothing to compare against PubMed's own",
277
- "source": "pubmed",
278
- "release": null,
279
- "checked_at": "2026-09-26T22:42:19Z",
280
- "producer": "just-dna-enricher 0.7.2"
281
- },
282
- {
283
- "check": "clinical_significance",
284
- "subjects": 0,
285
- "findings": 0,
286
- "skipped": null,
287
- "detail": null,
288
- "source": "clinvar",
289
- "release": "clinvar_2026-06-27",
290
- "checked_at": "2026-09-26T23:45:05Z",
291
- "producer": "just-dna-enricher 0.7.0"
292
- },
293
- {
294
- "check": "dataset_currency",
295
- "subjects": 0,
296
- "findings": 0,
297
- "skipped": "nothing_to_check",
298
- "detail": "the module records no release, so it makes no claim about where its rows came from",
299
- "source": null,
300
- "release": null,
301
- "checked_at": "2026-09-26T23:45:05Z",
302
- "producer": "just-dna-enricher 0.7.0"
303
- },
304
- {
305
- "check": "evidence_status_currency",
306
- "subjects": 0,
307
- "findings": 0,
308
- "skipped": "nothing_to_check",
309
- "detail": "this module records no citation drafted from CIViC's API, so there is no recorded curation status to re-ask about",
310
- "source": "civic",
311
- "release": null,
312
- "checked_at": "2026-09-26T23:45:05Z",
313
- "producer": "just-dna-enricher 0.7.0"
314
- },
315
- {
316
- "check": "genome_build_agreement",
317
- "subjects": 0,
318
- "findings": 0,
319
- "skipped": "offline",
320
- "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",
321
- "source": "ensembl-grch37",
322
- "release": null,
323
- "checked_at": "2026-09-26T23:45:05Z",
324
- "producer": "just-dna-enricher 0.7.0"
325
- },
326
- {
327
- "check": "provenance_quote",
328
- "subjects": 0,
329
- "findings": 0,
330
- "skipped": "nothing_to_check",
331
- "detail": "no provenance quote or regex on any citation, so none of them asked this question",
332
- "source": "europepmc",
333
- "release": null,
334
- "checked_at": "2026-09-26T22:42:19Z",
335
- "producer": "just-dna-enricher 0.7.2"
336
- },
337
- {
338
- "check": "published_refutation",
339
- "subjects": 0,
340
- "findings": 0,
341
- "skipped": null,
342
- "detail": "no authored direction sits beside a published refutation (basis accepted)",
343
- "source": "civic",
344
- "release": "civic_01-Sep-2026",
345
- "checked_at": "2026-09-26T23:45:05Z",
346
- "producer": "just-dna-enricher 0.7.0"
347
- },
348
- {
349
- "check": "reference_allele",
350
- "subjects": 0,
351
- "findings": 0,
352
- "skipped": "offline",
353
- "detail": "no sequence access this run, so no authored ref was compared",
354
- "source": "seqrepo",
355
- "release": null,
356
- "checked_at": "2026-09-26T23:45:05Z",
357
- "producer": "just-dna-enricher 0.7.0"
358
- },
359
- {
360
- "check": "rsid_coordinate_agreement",
361
- "subjects": 0,
362
- "findings": 0,
363
- "skipped": "nothing_to_check",
364
- "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",
365
- "source": "ensembl",
366
- "release": null,
367
- "checked_at": "2026-09-26T23:45:05Z",
368
- "producer": "just-dna-enricher 0.7.0"
369
- },
370
- {
371
- "check": "rsid_currency",
372
- "subjects": 0,
373
- "findings": 0,
374
- "skipped": "not_requested",
375
- "detail": null,
376
- "source": "dbsnp",
377
- "release": null,
378
- "checked_at": "2026-09-26T23:45:05Z",
379
- "producer": "just-dna-enricher 0.7.0"
380
- }
381
- ]
382
- },
383
- "inputs": [
384
- {
385
- "name": "module_spec.yaml",
386
- "sha256": "sha256:2733c2a14ba30b0638bd054aeb4a7a5f51113dc49d50a02713da4c7f5c39226d",
387
- "size": 426
388
- },
389
- {
390
- "name": "variants.csv",
391
- "sha256": "sha256:b619a806ad0321db7fbe7876e7fcb7487d2f889f288acf4fbd4e388885400eac",
392
- "size": 14025
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- },
394
- {
395
- "name": "studies.csv",
396
- "sha256": "sha256:a730fff7b1a55da571cf89426497502ca4824a010c175bee92e9ec9aad8851c5",
397
- "size": 8971
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- }
399
- ],
400
- "content_signature": "sha256:edacf509e48c2c9500d2869102ae5e60e5dbe3842a012650d17f9f18636926aa",
401
  "artifact": {
402
- "digest": "sha256:c64102efadc92c827fe57cba08049e480c56f0d5fbe4588dcd54aafc2c437122",
403
- "files": [
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- {
405
- "name": "weights.parquet",
406
- "sha256": "sha256:2df994356900b5e9e6407b4028f4562b802ea129ea173750660c6243441db570",
407
- "size": 16441
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- },
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- {
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- "name": "annotations.parquet",
411
- "sha256": "sha256:ff15d7ce3531b84ed3d1c395b9b6c4639dccff3ec37afff34bafd07500216367",
412
- "size": 6189
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- },
414
- {
415
- "name": "studies.parquet",
416
- "sha256": "sha256:861ded4397e023b7cec845f60d377b65c372b3c6935e2a13250d1d2e233708bc",
417
- "size": 9468
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- },
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- {
420
- "name": "literature.parquet",
421
- "sha256": "sha256:3b8ca0aa6eb39da96d48c75250583effdf80fa69f332cce36bcb0d9a64b23811",
422
- "size": 7239
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- },
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- {
425
- "name": "clin_sig_concordance.parquet",
426
- "sha256": "sha256:0611079ba1ae139bf1b1c3038d0f784a798747436c88275b47e6e986d10fe9a6",
427
- "size": 919
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- },
429
- {
430
- "name": "clin_sig_authority_calls.parquet",
431
- "sha256": "sha256:233b40fd79c7da73a9989ef4f7442886fd11d4495fbab9fe3a8d630855c9a1d4",
432
- "size": 1138
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- },
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- {
435
- "name": "sources.parquet",
436
- "sha256": "sha256:c4e2a2af5b57555f22d38d6aeebb32bf1d7ab02c37b050ae696d576dc9f5fc5f",
437
- "size": 6579
438
- }
439
- ]
440
  },
441
- "logs": [
442
- {
443
- "name": "v1_port.log",
444
- "sha256": "sha256:ea22f4321bed148aed56bcbbab3a8c9b676adb26041beb97df1ab516150b95af",
445
- "size": 5139
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- }
447
- ],
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- "derived": [
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- {
450
- "name": "resolution.csv",
451
- "sha256": "sha256:b71d918d8978e7d3d0ddad158ce431d4e64f379f32a7d962909d201bdde277d2",
452
- "size": 11133
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- },
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- {
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- "name": "verification.json",
456
- "sha256": "sha256:d2e3d62ce8a554da015785194408396390941f0065c2a8f4cfa313e45c9f0c92",
457
- "size": 4270
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- },
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- {
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- "name": "literature.csv",
461
- "sha256": "sha256:408bcb180d8530722d2f4a5ecbdf3563aafc493b3ce972109ae0c944ed877cd3",
462
- "size": 3754
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- },
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- {
465
- "name": "clin_sig_concordance.csv",
466
- "sha256": "sha256:ff2fbcd4a536aff6577458b75e00602b79623361583187e4412dcb01449ac891",
467
- "size": 99
468
- },
469
- {
470
- "name": "clin_sig_authority_calls.csv",
471
- "sha256": "sha256:9845268c423f16dc3528bc568f25f2633066af2b8155e76185e4395c9dd0a9f0",
472
- "size": 107
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- },
474
- {
475
- "name": "licensing.csv",
476
- "sha256": "sha256:9ab1fd4314f6c073b8f4e66c0829f5f480c9a941556ba51eba1c6f055f2e31ba",
477
- "size": 677
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- }
479
- ],
480
  "provenance": null,
481
  "panel": null,
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- "logo": {
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- "name": "logo.png",
484
- "sha256": "sha256:484dbe2fecaff51b3130e1a793a8bf409d81373c8e49fd4c7849229b0691eae0",
485
- "size": 384240
486
- },
487
  "readme": null,
488
  "signature": null
489
  }
 
2
  "manifest_version": "1.0",
3
  "schema_version": "1.0",
4
  "identity": {
5
+ "namespace": null,
6
+ "name": "test_module",
7
+ "version": "1.2.3",
8
  "version_coerced_from": null,
9
+ "canonical_id": null
10
  },
11
  "display": {
12
+ "title": "test_module",
13
+ "description": "test_module",
14
+ "report_title": "test_module",
15
+ "icon": "database",
16
  "icon_set": "fomantic",
17
+ "color": "#6435c9"
18
  },
19
  "genome_build": "GRCh38",
20
+ "curator": null,
21
+ "method": null,
22
  "license": null,
23
  "authority_precedence": [],
24
  "weighting": null,
25
+ "owner": null,
26
  "authors": [],
27
  "authorship": [],
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  "created_at": null,
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+ "published_at": null,
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  "stats": {
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+ "variant_count": 0,
32
+ "weights_rows": 0,
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+ "study_count": 0,
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+ "gene_count": 0,
35
+ "genes": [],
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
36
  "categories": [],
37
  "clinvar_count": 0,
38
  "pathogenic_count": 0,
39
  "benign_count": 0
40
  },
41
  "compilation": {
42
+ "compile_success": false,
43
+ "compiled_by": null,
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+ "compiler_version": null,
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+ "ensembl_reference": null,
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+ "compiled_at": null,
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+ "warnings": [],
48
+ "carried": [],
49
+ "warnings_summary": {},
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
50
  "dropped_rows": {},
51
+ "resolution_mode": null,
52
+ "fully_resolved": false,
53
+ "resolution_subjects": 0,
54
+ "expanded_keys": null,
55
+ "expanded_rows": null,
56
+ "resolution_signature": null,
57
+ "resolution_sources": [],
58
+ "vrs_alleles": 0,
59
+ "vrs_alleles_identified": 0,
60
+ "positional_rows": null,
61
+ "positional_rows_placed": null
 
 
 
62
  },
63
  "frequency": null,
64
  "gene_metrics": null,
 
66
  "clinical_assertions": null,
67
  "gwas_effects": null,
68
  "expression_effects": null,
69
+ "literature": null,
 
 
 
 
 
 
 
 
 
 
 
 
 
70
  "clin_sig_concordance": null,
71
+ "sources": null,
72
+ "verification": null,
73
+ "inputs": [],
74
+ "content_signature": null,
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
75
  "artifact": {
76
+ "digest": "sha256:0000000000000000000000000000000000000000000000000000000000000000",
77
+ "files": []
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
78
  },
79
+ "logs": [],
80
+ "derived": [],
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
81
  "provenance": null,
82
  "panel": null,
83
+ "logo": null,
 
 
 
 
84
  "readme": null,
85
  "signature": null
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