Skip to content
Merged

Dev #4918

Show file tree
Hide file tree
Changes from all commits
Commits
Show all changes
182 commits
Select commit Hold shift + click to select a range
c17c75b
add key to saved variant model
hanars Jul 15, 2025
83b4d24
intial command
hanars Jul 15, 2025
53a8e09
Merge branch 'clickhouse-variant-lookup' of https://github.com/broadi…
hanars Jul 15, 2025
917f220
updates for all dataset types
hanars Jul 15, 2025
a0566a0
find usages that need updating
hanars Jul 15, 2025
f335375
backend specific reloading logic
hanars Jul 15, 2025
e039cac
clickhouse genotype helper
hanars Jul 15, 2025
b1f8bc6
correctly set sample data
hanars Jul 16, 2025
f0a40b3
fix create saved variant
hanars Jul 16, 2025
8cc5e42
better todos;
hanars Jul 16, 2025
b5d3b2e
cleanup and add genome version to helpers
hanars Jul 16, 2025
1d09d68
add datset type
hanars Jul 16, 2025
676f3e7
return saved variants with annotations
hanars Jul 16, 2025
2c17998
fix bulk create tags behavior
hanars Jul 16, 2025
f3ec231
variant genes from clickhouse
hanars Jul 16, 2025
da202d0
filter saved variants by clickhouse genes
hanars Jul 16, 2025
53b9910
variant gene note id
hanars Jul 16, 2025
652a10f
Merge branch 'dev' of https://github.com/broadinstitute/seqr into cli…
hanars Jul 17, 2025
fb331e0
setting keys actually works
hanars Jul 17, 2025
0f9f5f8
add id mapping logic for SVs
hanars Jul 18, 2025
bda4430
remap gcnv based on callset ids
hanars Jul 18, 2025
3893df5
whitelist known dropped svs
hanars Jul 18, 2025
37802ba
better sv mapping
hanars Jul 18, 2025
1d56713
more sv remapping
hanars Jul 21, 2025
647638c
sv remapping ctd
hanars Jul 21, 2025
6a4f34a
sv remapping
hanars Jul 22, 2025
c40fe6d
Merge branch 'dev' of https://github.com/broadinstitute/seqr into cli…
hanars Jul 22, 2025
35336f2
ghroup by variant id
hanars Jul 22, 2025
98e49d8
more remapping
hanars Jul 22, 2025
550d0c6
misc updates
hanars Jul 23, 2025
68ab372
update report saved variant json
hanars Jul 23, 2025
932269e
sv remapping
hanars Jul 23, 2025
f97603e
fix typo
hanars Jul 23, 2025
b8fbb2b
report test fixes
hanars Jul 23, 2025
03c3c80
fix project context
hanars Jul 23, 2025
68caf15
fix test
hanars Jul 23, 2025
cf6a070
Merge branch 'clickhouse-unit-test' of https://github.com/broadinstit…
hanars Jul 23, 2025
7207ef8
remove default for clickhouse
hanars Jul 23, 2025
c13e82f
add missing case
hanars Jul 23, 2025
1a60b48
clean up
hanars Jul 23, 2025
3aa184f
TODOs
hanars Jul 23, 2025
c17cba6
sv remapping
hanars Jul 23, 2025
8cc4882
remove deprecated lift finctionality and clean up variant search calls
hanars Jul 23, 2025
339c544
clean up
hanars Jul 23, 2025
6e8e74a
Merge branch 'dev' of https://github.com/broadinstitute/seqr into cli…
hanars Jul 24, 2025
dc3c4b9
sv remapping
hanars Jul 24, 2025
36e7f69
sv remapping
hanars Jul 24, 2025
dba314c
fix saved variant parsing
hanars Jul 24, 2025
4c65f54
finalize set key command
hanars Jul 24, 2025
9cca269
correctly get genes for bulk created variants
hanars Jul 24, 2025
a6db828
correclt set variant load and reload logic for bulk create saved vari…
hanars Jul 25, 2025
0e908f5
oops
hanars Jul 25, 2025
d2443b5
Merge branch 'dev' of https://github.com/broadinstitute/seqr into cli…
hanars Jul 25, 2025
f146d17
fixture data for clcikhosue saved variants
hanars Jul 25, 2025
a3e39b7
fix lookup for saved variants with no key
hanars Jul 25, 2025
0256415
properly set joined annotations for annotation only query
hanars Jul 25, 2025
4c43495
fix annotation joins
hanars Jul 25, 2025
e1da17f
transcript fixture data
hanars Jul 25, 2025
1cdcc21
add clickhouse to test fixtures
hanars Jul 25, 2025
b6c3b4c
updo overzealous fixtures
hanars Jul 25, 2025
bd498c7
fix clickhouse report queries
hanars Jul 28, 2025
393c887
fix fixture data
hanars Jul 28, 2025
f24f5ec
handle multiple discovery saved variants with same key
hanars Jul 28, 2025
f81b549
handle multiple discovery saved variants with same key
hanars Jul 28, 2025
1190fec
handle no discovery gene
hanars Jul 28, 2025
8250d30
conditionally mock backend for aip test
hanars Jul 28, 2025
1a9ff1c
clean up
hanars Jul 28, 2025
1bbfc96
fix bulk tags
hanars Jul 28, 2025
1be2bb5
test daip tags different in different backends
hanars Jul 28, 2025
ed1772d
use correct genome version for tags
hanars Jul 28, 2025
de707b5
spilt fixtures
hanars Jul 28, 2025
4ebde1d
clean up saved variant json
hanars Jul 28, 2025
4f45ece
codacy
hanars Jul 28, 2025
edc329f
create saved variant test
hanars Jul 28, 2025
cb668e3
fix underlying clinvar join
hanars Jul 29, 2025
7bc6b3b
fix save sv test
hanars Jul 29, 2025
cc05c1b
fix tests
hanars Jul 29, 2025
80f545c
fix transaction rollbacks
hanars Jul 29, 2025
9d1e959
codacy fixes
hanars Jul 29, 2025
49fcf56
more transaction cleanup
hanars Jul 29, 2025
ba5770e
fix fixtures
hanars Jul 29, 2025
9ba3e6b
restrict tests to needed databases
hanars Jul 29, 2025
ab959ae
Revert "fix fixtures"
hanars Jul 29, 2025
32ff19e
fix report fixtures
hanars Jul 29, 2025
2b15fe4
more transactin clean up
hanars Jul 29, 2025
a91a688
fix report fixture data
hanars Jul 29, 2025
b3e6c1f
test clinvar in metadata
hanars Jul 29, 2025
7964b6e
fix report tests
hanars Jul 29, 2025
f53f342
more test db cleanup
hanars Jul 29, 2025
b52e336
fix reload clinvar test dbs
hanars Jul 29, 2025
b25af06
transaction support mixin
hanars Jul 29, 2025
440550d
deprecate utils test
hanars Jul 29, 2025
c468a5f
fix tranasaction support
hanars Jul 29, 2025
27aec5e
Revert "fix tranasaction support"
hanars Jul 29, 2025
25ee902
fix variant search tests
hanars Jul 29, 2025
397fce1
fix test
hanars Jul 29, 2025
859da8e
correct success file for clickhouse loading
hanars Jul 29, 2025
7f6717b
Merge branch 'dev' of https://github.com/broadinstitute/seqr into cli…
hanars Jul 29, 2025
a2055f6
fix transaction cleanup
hanars Jul 30, 2025
fb2f10a
test fixes
hanars Jul 30, 2025
e3a727b
properly configure clickhouse vs hail for reload testing
hanars Jul 30, 2025
40426d6
fix missing import
hanars Jul 30, 2025
aaaecec
actually test clickhouse for check new samples
hanars Jul 30, 2025
d701db3
check samples reload logs
hanars Jul 30, 2025
1ed36d3
fix response test
hanars Jul 30, 2025
59a6ff4
check smaples test cleanup
hanars Jul 30, 2025
8453e9b
actually cover genotype updates
hanars Jul 30, 2025
9c14ee5
clear non transaction databases at end of test class
hanars Jul 30, 2025
b518d79
fix variant search tests
hanars Jul 30, 2025
17f2135
syntax cleanup
hanars Jul 30, 2025
52080da
fix gregor metadta test
hanars Jul 30, 2025
1f96d76
codacy
hanars Jul 30, 2025
8333cad
fix family discovery tags;
hanars Jul 30, 2025
0683887
relioad dictionary
hanars Jul 30, 2025
229f8b9
fix typo
hanars Jul 30, 2025
855761e
reload for every test
hanars Jul 30, 2025
22ca944
fir search test dictionary reloading
hanars Jul 30, 2025
7cb1003
test coverage audit
hanars Jul 30, 2025
addaa2c
disable reload variants
hanars Jul 30, 2025
5d9103f
test save clickhouse gene note with selected transcript
hanars Jul 30, 2025
e910c8c
remove todos
hanars Jul 30, 2025
ebdcd23
test set keys
hanars Jul 30, 2025
ac5d68e
test metadata for other dataset types
hanars Jul 30, 2025
e78b3ae
actually test clcikhsoue report svs
hanars Jul 30, 2025
3a7ce83
fix test
hanars Jul 30, 2025
433bba5
manage command test coverage
hanars Jul 31, 2025
d9cf2f8
Merge branch 'clickhouse-saved-variants' of https://github.com/broadi…
hanars Jul 31, 2025
631fa16
do not implement variant ids lookup
hanars Jul 31, 2025
e4fb9eb
implement clickhouse get single variant
hanars Jul 31, 2025
ca00bf7
test query single variant
hanars Jul 31, 2025
92983d0
test clickhouse get single variant
hanars Jul 31, 2025
0cfa9f4
codacy
hanars Jul 31, 2025
df1ed81
fix tests
hanars Jul 31, 2025
bf72f7d
fix delete family note bug
hanars Jul 31, 2025
bccd0fe
Merge pull request #4901 from broadinstitute/delete-analysis-note-bug
hanars Jul 31, 2025
b117dc4
correctly allow for external anvil family deletion
hanars Jul 31, 2025
a08795d
Merge pull request #4902 from broadinstitute/anvil-user-delete-family
hanars Jul 31, 2025
e327de5
Merge branch 'dev' of https://github.com/broadinstitute/seqr into cli…
hanars Aug 1, 2025
d6319f8
pr feedback
hanars Aug 1, 2025
c758c38
mosc fixes for dev deployment
hanars Aug 1, 2025
bdf814b
fix sample type casing
hanars Aug 1, 2025
1f4f27a
Merge pull request #4903 from broadinstitute/clcikhosue-deploy-fixes
hanars Aug 1, 2025
636c5c5
fixture data
hanars Aug 1, 2025
eb8f3cc
implement hom alt trans del override
hanars Aug 1, 2025
f5aabbf
test comp het trans deletion
hanars Aug 1, 2025
6108efb
actually test gene counts in clickhouse tests
hanars Aug 1, 2025
8173f4f
Merge branch 'dev' of https://github.com/broadinstitute/seqr into com…
hanars Aug 1, 2025
e76df7c
fix new seqr pop
hanars Aug 1, 2025
554b534
Merge pull request #4905 from broadinstitute/clickhouse-gene-count-un…
hanars Aug 1, 2025
49e411c
fix test redis setup
hanars Aug 1, 2025
d3a00c7
Merge pull request #4906 from broadinstitute/test-redis-cleanup
hanars Aug 1, 2025
7aa2186
Merge pull request #4899 from broadinstitute/backend-specific-call-cl…
hanars Aug 1, 2025
38ce601
Merge branch 'dev' of https://github.com/broadinstitute/seqr into cli…
hanars Aug 1, 2025
f40d488
Merge branch 'dev' of https://github.com/broadinstitute/seqr into com…
hanars Aug 1, 2025
1a47f5a
Merge pull request #4890 from broadinstitute/clickhouse-saved-variants
hanars Aug 1, 2025
bb0c617
Merge branch 'dev' of https://github.com/broadinstitute/seqr into com…
hanars Aug 1, 2025
79217b3
use keywrord args instead of dicts
hanars Aug 4, 2025
cedcffa
add tests for standard searches
hanars Aug 4, 2025
8889508
standard search tests pass
hanars Aug 4, 2025
ffe8f19
Merge pull request #4907 from broadinstitute/sv-search-clinvar-bug
hanars Aug 4, 2025
be5066b
add allele validation before querying VLM
hanars Aug 4, 2025
2c55b85
Merge pull request #4904 from broadinstitute/comp-het-trans-deletion
hanars Aug 4, 2025
c1228b3
Merge pull request #4909 from broadinstitute/better-lookup-variant-va…
hanars Aug 4, 2025
8819763
fix json encoding for gsvs with null genes
hanars Aug 4, 2025
da95a43
fix test
hanars Aug 4, 2025
2ddd697
Merge pull request #4910 from broadinstitute/missing-sv-gene-null-enc…
hanars Aug 4, 2025
d44ffd0
restrict no location searches in clickhouse
hanars Aug 5, 2025
27010e7
correctly validate multiple sample types per family
hanars Aug 5, 2025
a9ee1f6
update saved searches
hanars Aug 5, 2025
fa60adc
remove sv callset af from ui
hanars Aug 5, 2025
477dbf0
Merge pull request #4914 from broadinstitute/no-location-search-valid…
hanars Aug 5, 2025
2729f2f
Merge pull request #4915 from broadinstitute/deprecate-sv-callset-af
hanars Aug 5, 2025
7166a39
migrate from rocksdb to join tables
bpblanken Aug 6, 2025
0ff686a
lint
bpblanken Aug 6, 2025
eed9740
remove unused
bpblanken Aug 6, 2025
fae9fb3
clean up unused abstract base classes
hanars Aug 6, 2025
f986cd8
fix deleted clickhouse model routing
hanars Aug 6, 2025
5dcae64
cleaner clcikhosue migration routing
hanars Aug 6, 2025
48bab4b
fix fistrue loading for new join tables
hanars Aug 6, 2025
76976c9
better comment
hanars Aug 6, 2025
958c874
Merge pull request #4916 from broadinstitute/benb/join_table_non_snv_…
hanars Aug 6, 2025
2a3ec80
bump changelog
hanars Aug 7, 2025
File filter

Filter by extension

Filter by extension

Conversations
Failed to load comments.
Loading
Jump to
Jump to file
Failed to load files.
Loading
Diff view
Diff view
3 changes: 3 additions & 0 deletions CHANGELOG.md
Original file line number Diff line number Diff line change
Expand Up @@ -2,6 +2,9 @@

## dev

## 8/7/25
* Deprecate support for lifting existing projects from GRCH37 to GRCh38

## 4/4/25
* Refactor manage commands to update reference data. May require changes to custom cron jobs. (REQUIRES DB MIGRATION)

Expand Down
3 changes: 2 additions & 1 deletion clickhouse_search/backend/fields.py
Original file line number Diff line number Diff line change
Expand Up @@ -50,7 +50,8 @@ def _from_db_value(self, value, expression, connection, format_item=None):
if self.group_by_key:
group_value = defaultdict(list)
for item in value:
group_value[item[self.group_by_key]].append(item)
group_key = item[self.group_by_key]
group_value['null' if group_key is None else group_key].append(item)
if self.flatten_groups:
value = {k: v[0] if len(v) == 1 else v for k, v in group_value.items()}
else:
Expand Down
2 changes: 1 addition & 1 deletion clickhouse_search/backend/functions.py
Original file line number Diff line number Diff line change
Expand Up @@ -120,7 +120,7 @@ class DictGet(Func):

class If(Func):
function = 'if'
template = '%(function)s(%(condition)s, %(expressions)s)'
template = '%(function)s(%(condition)s%(expressions)s)'


class MapLookup(Func):
Expand Down
333 changes: 333 additions & 0 deletions clickhouse_search/fixtures/clickhouse_saved_variants.json
Original file line number Diff line number Diff line change
@@ -0,0 +1,333 @@
[{
"model": "clickhouse_search.keylookupgrch37snvindel",
"pk": 100,
"fields": {
"key": 100,
"variant_id": "1-248367227-TC-T"
}
}, {
"model": "clickhouse_search.annotationsgrch37snvindel",
"pk": 100,
"fields": {
"key": 100,
"xpos": 1248367227,
"chrom": "1",
"pos": 248367227,
"ref": "TC",
"alt": "T",
"variant_id": "1-248367227-TC-T",
"rsid": null,
"caid": "CA1501729",
"lifted_over_chrom": null,
"lifted_over_pos": null,
"hgmd": [null, null],
"predictions": [27.2, null, null, null, null, null, null, null, null, null, null, null, null],
"populations": [
[66593, 0.63, 104352, 0.81988, 0, 22269, 22162],
[137532, 0.63542, 216442, 0.82261, 0, 45869],
[14649, 0.61365, 23872, 0.82844, 0, 4584],
[65461, 0.52132, 125568, 33149, 16156]
],
"sorted_transcript_consequences": [
[1, [], "ENSG00000240361"],
[1, [], "ENSG00000135953"]
]
}
}, {
"model": "clickhouse_search.transcriptsgrch37snvindel",
"pk": 100,
"fields": {
"key": 100,
"transcripts": [
[null, "protein_coding", 1, "Gtg/Atg", ["intron_variant"], "ENSG00000240361", "ENST00000262738.3:c.3955G>A", "ENST00000505820.2:c.1586-17C>G", [null, []], "intron_variant", "ENST00000505820", 0],
[null, "protein_coding", 1, null, [], "ENSG00000135953", null, null, [null, []], null, "ENST00000371839", 1]
]
}
}, {
"model": "clickhouse_search.clinvargrch37snvindel",
"pk": 100,
"fields": {
"key": 100,
"allele_id": 12345,
"conflicting_pathogenicities": [],
"gold_stars": null,
"submitters": [],
"conditions": [],
"assertions": [],
"pathogenicity": "Uncertain_significance"
}
}, {
"model": "clickhouse_search.entriesgrch37snvindel",
"pk": 100,
"fields": {
"key": 100,
"project_guid": "R0001_1kg",
"family_guid": "F000002_2",
"sample_type": "WGS",
"xpos": 1248367227,
"is_gnomad_gt_5_percent": false,
"filters": [],
"sign": 1,
"calls": [
["HG00733", 1, 99, 0.6530612111091614, 49],
["HG00731", 2, 48, 1, 16]
]
}
}, {
"model": "clickhouse_search.keylookupgrch37snvindel",
"pk": 101,
"fields": {
"key": 101,
"variant_id": "2-103343353-GAGA-G"
}
}, {
"model": "clickhouse_search.annotationsgrch37snvindel",
"pk": 101,
"fields": {
"key": 101,
"xpos": 2103343353,
"chrom": "2",
"pos": 103343353,
"ref": "GAGA",
"alt": "G",
"variant_id": "2-103343353-GAGA-G",
"rsid": null,
"caid": null,
"lifted_over_chrom": null,
"lifted_over_pos": null,
"hgmd": [null, null],
"predictions": [null, null, null, null, null, null, null, null, null, null, null, null, null],
"populations": [
[0, 0, 0, 0, 0, 0, 0],
[0, 0, 0, 0, 0, 0],
[4, 0.000044254640670260414, 90386, 0.00011118523252662271, 0, 0],
[13, 0.00004911409996566363, 264690, 13, 0]
],
"sorted_transcript_consequences": [
[1, ["inframe_deletion"], "ENSG00000135953"],
[1, ["frameshift_variant"], "ENSG00000228198"]
]
}
}, {
"model": "clickhouse_search.entriesgrch37snvindel",
"pk": 101,
"fields": {
"key": 101,
"project_guid": "R0001_1kg",
"family_guid": "F000002_2",
"sample_type": "WES",
"xpos": 2103343353,
"is_gnomad_gt_5_percent": false,
"filters": [],
"sign": 1,
"calls": [
["HG00731", 2, 99, 0, 67],
["HG00732", 1, 96, 0, 42],
["HG00733", 0, 96, 0, 42]
]
}
}, {
"model": "clickhouse_search.annotationsgrch37snvindel",
"pk": 123,
"fields": {
"key": 123,
"xpos": 261413835,
"chrom": "2",
"pos": 61413835,
"ref": "AAAG",
"alt": "A",
"variant_id": "2-61413835-AAAG-A",
"rsid": null,
"caid": null,
"lifted_over_chrom": null,
"lifted_over_pos": null,
"hgmd": [null, null],
"predictions": [21.9, null, null, null, null, null, null, null, null, null, null, null, null],
"populations": [
[0, 0, 0, 0, 0, 0, 0],
[0, 0, 0, 0, 0, 0],
[0, 0, 0, 0, 0, 0],
[0, 0, 0, 0, 0]
],
"sorted_transcript_consequences": []
}
}, {
"model": "clickhouse_search.keylookupsnvindel",
"pk": 100,
"fields": {
"key": 100,
"variant_id": "1-248367227-TC-T"
}
}, {
"model": "clickhouse_search.annotationssnvindel",
"pk": 100,
"fields": {
"key": 100,
"xpos": 1248367227,
"chrom": "1",
"pos": 248367227,
"ref": "TC",
"alt": "T",
"variant_id": "1-248367227-TC-T",
"rsid": null,
"caid": "CA1501729",
"lifted_over_chrom": "1",
"lifted_over_pos": null,
"hgmd": [null, null],
"screen_region_type": null,
"predictions": [null, null, null, null, null, null, null, null, null, null, null, null, null, null],
"populations": [
[0, 0, 0, 0, 0, 0, 0],
[0, 0, 0, 0, 0, 0],
[4, 0.000044254640670260414, 90386, 0.00011118523252662271, 0, 0],
[13, 0.00004911409996566363, 264690, 13, 0]
],
"sorted_transcript_consequences": [],
"sorted_motif_feature_consequences": [],
"sorted_regulatory_feature_consequences": []
}
}, {
"model": "clickhouse_search.entriessnvindel",
"pk": 100,
"fields": {
"key": 100,
"project_guid": "R0004_non_analyst_project",
"family_guid": "F000014_14",
"sample_type": "WGS",
"xpos": 1248367227,
"is_gnomad_gt_5_percent": false,
"filters": [],
"sign": 1,
"calls": [
["NA21234", 2, 99, 0, 49]
]
}
}, {
"model": "clickhouse_search.keylookupsv",
"pk": 101,
"fields": {
"key": 101,
"variant_id": "suffix_19107_DEL"
}
}, {
"model": "clickhouse_search.annotationssv",
"pk": 101,
"fields": {
"key": 101,
"xpos": 1249045487,
"chrom": "1",
"end_chrom": null,
"pos": 249045487,
"end": 249045898,
"variant_id": "suffix_19107_DEL",
"lifted_over_chrom": null,
"lifted_over_pos": null,
"rg37_locus_end": [null, null],
"bothsides_support": false,
"algorithms": "manta",
"predictions": [0.374],
"populations": [
[0, 0, 0, ""]
],
"sorted_gene_consequences": [
["ENSG00000240361", "LOF"],
["ENSG00000135953", "LOF"],
["ENSG00000223972", "LOF"]
],
"sv_type": "DEL",
"sv_type_detail": null,
"cpx_intervals": [],
"sv_source_detail": [null]
}
},{
"model": "clickhouse_search.keylookupgcnv",
"pk": 111,
"fields": {
"key": 111,
"variant_id": "prefix_70191_DEL"
}
}, {
"model": "clickhouse_search.annotationsgcnv",
"pk": 111,
"fields": {
"key": 111,
"xpos": 1249045487,
"chrom": "1",
"pos": 249045487,
"end": 249045898,
"variant_id": "prefix_70191_DEL",
"lifted_over_chrom": "2",
"lifted_over_pos": null,
"rg37_locus_end": [null, null],
"num_exon": 2,
"predictions": [0.374],
"populations": [
[2, 0.063, 32, 0, 0]
],
"sorted_gene_consequences": [
["ENSG00000240361", "LOF"],
["ENSG00000135953", "LOF"],
["ENSG00000223972", "LOF"]
],
"sv_type": "DUP"
}
}, {
"model": "clickhouse_search.annotationsgcnv",
"pk": 123,
"fields": {
"key": 123,
"xpos": 2061413835,
"chrom": "2",
"pos": 61413835,
"end": 61414175,
"variant_id": "batch_123_DUP",
"lifted_over_chrom": "2",
"lifted_over_pos": 61413835,
"rg37_locus_end": [2, 61414175],
"num_exon": 0,
"predictions": [21.9],
"populations": [
[2, 0.063, 32, 0, 0]
],
"sorted_gene_consequences": [
["ENSG00000240361", "LOF"]
],
"sv_type": "DUP"
}
}, {
"model": "clickhouse_search.keylookupmito",
"pk": 100,
"fields": {
"key": 100,
"variant_id": "M-14783-T-C"
}
}, {
"model": "clickhouse_search.annotationsmito",
"pk": 100,
"fields": {
"key": 100,
"xpos": 25000014783,
"pos": 14783,
"ref": "T",
"alt": "C",
"variant_id": "M-14783-T-C",
"rsid": "rs193302982",
"lifted_over_pos": 14783,
"common_low_heteroplasmy": true,
"mitomap_pathogenic": true,
"predictions": [null, true, null, null, null, null, 0.7514],
"populations": [
[3118, 0.05535, 56336],
[3, 0.00005, 56336, 1],
[9573, 0.04885, 195983],
[18, 0.00009, 195983, 0.96269]
],
"sorted_transcript_consequences": [
[
"L", "protein_coding", 1, "Tta/Cta", ["synonymous_variant"], "ENSG00000198727", "ENST00000361789.2:c.37T>C",
"ENSP00000354554.2:p.Leu13=", [null, []], "synonymous_variant", "ENST00000361789", 0
]
]
}
}
]
Loading