changedInput schema / properties / dataset / description
Previous value: -"gnomAD dataset: gnomad_r4 (GRCh38, default), gnomad_r3 (GRCh38), gnomad_r2_1 (GRCh37), exac (GRCh37). Echoed in output."New value: +"gnomAD dataset, default gnomad_r4: gnomad_r4 and its subset gnomad_r4_non_ukb (GRCh38); gnomad_r3 and its subsets gnomad_r3_controls_and_biobanks, gnomad_r3_non_cancer, gnomad_r3_non_neuro, gnomad_r3_non_topmed, gnomad_r3_non_v2 (GRCh38); gnomad_r2_1 and its subsets gnomad_r2_1_controls, gnomad_r2_1_non_cancer, gnomad_r2_1_non_neuro, gnomad_r2_1_non_topmed (GRCh37); exac (GRCh37). A subset keeps only part of its parent release's samples (non_cancer leaves out cancer-study samples, non_ukb UK Biobank's) and can leave a callset unchanged: gnomad_r4_non_ukb genome counts equal gnomad_r4's, and gnomad_r2_1_non_cancer genome counts equal gnomad_r2_1's. No subset publishes joint data, and gnomAD publishes no subset coverage or constraint, so those come from the parent. Echoed in output."
changedInput schema / properties / dataset / enum
Previous value: -[
- "gnomad_r4",
- "gnomad_r3",
- "gnomad_r2_1",
- "exac"
-]New value: +[
+ "gnomad_r4",
+ "gnomad_r4_non_ukb",
+ "gnomad_r3",
+ "gnomad_r3_controls_and_biobanks",
+ "gnomad_r3_non_cancer",
+ "gnomad_r3_non_neuro",
+ "gnomad_r3_non_topmed",
+ "gnomad_r3_non_v2",
+ "gnomad_r2_1",
+ "gnomad_r2_1_controls",
+ "gnomad_r2_1_non_neuro",
+ "gnomad_r2_1_non_cancer",
+ "gnomad_r2_1_non_topmed",
+ "exac"
+]
changedInput schema / properties / reference_genome / description
Previous value: -"Reference build. Derived from dataset when omitted (v4/v3=GRCh38, v2.1/ExAC=GRCh37). If supplied it must match the dataset, or the call is rejected. Keep aligned with ensembl coordinates."New value: +"Reference build. Derived from dataset when omitted: GRCh38 for gnomad_r4, gnomad_r3, and their subsets; GRCh37 for gnomad_r2_1, its subsets, and exac. If supplied it must match the dataset, or the call is rejected. Keep aligned with ensembl coordinates."
changedOutput schema / properties / found / items / properties / ac / description
Previous value: -"Overall allele count — gnomAD's joint exome + genome count on gnomad_r4, the sum across carried callset(s) on datasets without joint data."New value: +"Overall allele count — gnomAD's joint exome + genome count on gnomad_r4, the sum across carried callset(s) on every other dataset, gnomad_r4_non_ukb and the other subsets included, since none publishes joint data."
changedOutput schema / properties / found / items / properties / an / description
Previous value: -"Overall allele number. On gnomad_r4, gnomAD's joint AN over every callable sample in both callsets, including a callset that does not carry the variant; on gnomad_r3, gnomad_r2_1, and exac (no joint data), the sum across carried callset(s), a callset that failed QC included — callsets carries each one's own AN and filters."New value: +"Overall allele number. On gnomad_r4, gnomAD's joint AN over every callable sample in both callsets, including a callset that does not carry the variant; on every other dataset (no joint data — gnomad_r4_non_ukb and every other subset, gnomad_r3, gnomad_r2_1, exac), the sum across carried callset(s), a callset that failed QC included — callsets carries each one's own AN and filters."
changedOutput schema / properties / found / items / properties / callsets / properties / exome / anyOf
Previous value: -[
- {
- "additionalProperties": false,
- "properties": {
- "ac": {
- "description": "Allele count in this callset alone.",
- "type": "number"
- },
- "af": {
- "description": "This callset's allele frequency, ac/an; null when an is 0.",
- "type": [
- "number",
- "null"
- ]
- },
- "an": {
- "description": "Allele number in this callset alone.",
- "type": "number"
- },
- "filters": {
- "anyOf": [
- {
- "items": {
- "type": "string"
- },
- "type": "array"
- },
- {
- "type": "null"
- }
- ],
- "description": "QC filters gnomAD applied to this callset's call — on gnomad_r4 AC0 (no high-quality carrier after genotype QC), AS_VQSR, InbreedingCoeff; the set varies by dataset (RF on gnomad_r2_1). Empty when the call passed QC; null when gnomAD returned no filter list."
- },
- "hemizygote_count": {
- "description": "Hemizygote count in this callset (0 off X/Y); null when gnomAD reports none.",
- "type": [
- "number",
- "null"
- ]
- },
- "homozygote_count": {
- "description": "Homozygote count in this callset.",
- "type": "number"
- }
- },
- "required": [
- "ac",
- "an",
- "af",
- "homozygote_count",
- "hemizygote_count",
- "filters"
- ],
- "type": "object"
- },
- {
- "type": "null"
- }
-]New value: +[
+ {
+ "additionalProperties": false,
+ "properties": {
+ "ac": {
+ "description": "Allele count in this callset alone.",
+ "type": "number"
+ },
+ "af": {
+ "description": "This callset's allele frequency, ac/an; null when an is 0.",
+ "type": [
+ "number",
+ "null"
+ ]
+ },
+ "an": {
+ "description": "Allele number in this callset alone.",
+ "type": "number"
+ },
+ "faf95": {
+ "anyOf": [
+ {
+ "additionalProperties": false,
+ "properties": {
+ "group": {
+ "description": "Genetic-ancestry group the value comes from (e.g. nfe); null when gnomAD names none.",
+ "type": [
+ "string",
+ "null"
+ ]
+ },
+ "value": {
+ "description": "The FAF95: the lower bound of the 95% confidence interval of the group's allele frequency.",
+ "type": "number"
+ }
+ },
+ "required": [
+ "value",
+ "group"
+ ],
+ "type": "object"
+ },
+ {
+ "type": "null"
+ }
+ ],
+ "description": "This callset's own filtering allele frequency (GroupMax FAF95, as the record's faf95). Null when gnomAD reports none, as for AC 0 and singleton variants and on exac, and on a gnomad_r4 or gnomad_r3 subset, whose variant record carries the parent release's FAF, not the subset's."
+ },
+ "filters": {
+ "anyOf": [
+ {
+ "items": {
+ "type": "string"
+ },
+ "type": "array"
+ },
+ {
+ "type": "null"
+ }
+ ],
+ "description": "QC filters gnomAD applied to this callset's call — on gnomad_r4 AC0 (no high-quality carrier after genotype QC), AS_VQSR, InbreedingCoeff; the set varies by dataset (RF on gnomad_r2_1). Empty when the call passed QC; null when gnomAD returned no filter list."
+ },
+ "hemizygote_count": {
+ "description": "Hemizygote count in this callset (0 off X/Y); null when gnomAD reports none.",
+ "type": [
+ "number",
+ "null"
+ ]
+ },
+ "homozygote_count": {
+ "description": "Homozygote count in this callset.",
+ "type": "number"
+ }
+ },
+ "required": [
+ "ac",
+ "an",
+ "af",
+ "homozygote_count",
+ "hemizygote_count",
+ "filters",
+ "faf95"
+ ],
+ "type": "object"
+ },
+ {
+ "type": "null"
+ }
+]
changedOutput schema / properties / found / items / properties / callsets / properties / genome / anyOf
Previous value: -[
- {
- "additionalProperties": false,
- "properties": {
- "ac": {
- "description": "Allele count in this callset alone.",
- "type": "number"
- },
- "af": {
- "description": "This callset's allele frequency, ac/an; null when an is 0.",
- "type": [
- "number",
- "null"
- ]
- },
- "an": {
- "description": "Allele number in this callset alone.",
- "type": "number"
- },
- "filters": {
- "anyOf": [
- {
- "items": {
- "type": "string"
- },
- "type": "array"
- },
- {
- "type": "null"
- }
- ],
- "description": "QC filters gnomAD applied to this callset's call — on gnomad_r4 AC0 (no high-quality carrier after genotype QC), AS_VQSR, InbreedingCoeff; the set varies by dataset (RF on gnomad_r2_1). Empty when the call passed QC; null when gnomAD returned no filter list."
- },
- "hemizygote_count": {
- "description": "Hemizygote count in this callset (0 off X/Y); null when gnomAD reports none.",
- "type": [
- "number",
- "null"
- ]
- },
- "homozygote_count": {
- "description": "Homozygote count in this callset.",
- "type": "number"
- }
- },
- "required": [
- "ac",
- "an",
- "af",
- "homozygote_count",
- "hemizygote_count",
- "filters"
- ],
- "type": "object"
- },
- {
- "type": "null"
- }
-]New value: +[
+ {
+ "additionalProperties": false,
+ "properties": {
+ "ac": {
+ "description": "Allele count in this callset alone.",
+ "type": "number"
+ },
+ "af": {
+ "description": "This callset's allele frequency, ac/an; null when an is 0.",
+ "type": [
+ "number",
+ "null"
+ ]
+ },
+ "an": {
+ "description": "Allele number in this callset alone.",
+ "type": "number"
+ },
+ "faf95": {
+ "anyOf": [
+ {
+ "additionalProperties": false,
+ "properties": {
+ "group": {
+ "description": "Genetic-ancestry group the value comes from (e.g. nfe); null when gnomAD names none.",
+ "type": [
+ "string",
+ "null"
+ ]
+ },
+ "value": {
+ "description": "The FAF95: the lower bound of the 95% confidence interval of the group's allele frequency.",
+ "type": "number"
+ }
+ },
+ "required": [
+ "value",
+ "group"
+ ],
+ "type": "object"
+ },
+ {
+ "type": "null"
+ }
+ ],
+ "description": "This callset's own filtering allele frequency (GroupMax FAF95, as the record's faf95). Null when gnomAD reports none, as for AC 0 and singleton variants and on exac, and on a gnomad_r4 or gnomad_r3 subset, whose variant record carries the parent release's FAF, not the subset's."
+ },
+ "filters": {
+ "anyOf": [
+ {
+ "items": {
+ "type": "string"
+ },
+ "type": "array"
+ },
+ {
+ "type": "null"
+ }
+ ],
+ "description": "QC filters gnomAD applied to this callset's call — on gnomad_r4 AC0 (no high-quality carrier after genotype QC), AS_VQSR, InbreedingCoeff; the set varies by dataset (RF on gnomad_r2_1). Empty when the call passed QC; null when gnomAD returned no filter list."
+ },
+ "hemizygote_count": {
+ "description": "Hemizygote count in this callset (0 off X/Y); null when gnomAD reports none.",
+ "type": [
+ "number",
+ "null"
+ ]
+ },
+ "homozygote_count": {
+ "description": "Homozygote count in this callset.",
+ "type": "number"
+ }
+ },
+ "required": [
+ "ac",
+ "an",
+ "af",
+ "homozygote_count",
+ "hemizygote_count",
+ "filters",
+ "faf95"
+ ],
+ "type": "object"
+ },
+ {
+ "type": "null"
+ }
+]
addedOutput schema / properties / found / items / properties / faf95
Added value: +{
+ "anyOf": [
+ {
+ "additionalProperties": false,
+ "properties": {
+ "group": {
+ "description": "Genetic-ancestry group the value comes from (e.g. nfe); null when gnomAD names none.",
+ "type": [
+ "string",
+ "null"
+ ]
+ },
+ "source": {
+ "description": "The record value comes from: gnomAD's joint data, or that callset.",
+ "enum": [
+ "joint",
+ "exome",
+ "genome"
+ ],
+ "type": "string"
+ },
+ "value": {
+ "description": "The FAF95: the lower bound of the 95% confidence interval of the group's allele frequency.",
+ "type": "number"
+ }
+ },
+ "required": [
+ "value",
+ "group",
+ "source"
+ ],
+ "type": "object"
+ },
+ {
+ "type": "null"
+ }
+ ],
+ "description": "gnomAD's filtering allele frequency (GroupMax FAF95): the lower bound of the 95% confidence interval of a genetic-ancestry group's AF, from the group with the highest bound, over non-bottlenecked groups only — the value to test against a disease threshold such as ACMG/AMP BA1 or BS1, which raw AF is not. Read from gnomAD's joint data wherever it publishes a joint record (gnomad_r4), even when that value is null; elsewhere the higher of the callsets' faf95, which source names. Null when gnomAD reports none, as for AC 0 and singleton variants and on exac, and on a gnomad_r4 or gnomad_r3 subset, whose variant record carries the parent release's FAF (a notice names the parent); gnomad_list_gene_variants' faf95_max carries gnomad_r4_non_ukb's own."
+}
addedOutput schema / properties / found / items / properties / hgvsc
Added value: +{
+ "description": "HGVS coding or transcript notation of the consequence (e.g. c.406G>T); null when none. It describes transcript_id, which can be a minor isoform; primary_transcript carries the MANE Select (else canonical) view.",
+ "type": [
+ "string",
+ "null"
+ ]
+}
addedOutput schema / properties / found / items / properties / hgvsp
Added value: +{
+ "description": "HGVS protein notation of the consequence (e.g. p.Glu136Ter); null when gnomAD gives none, as for a UTR or intronic change. It describes transcript_id, which can be a minor isoform; primary_transcript carries the MANE Select (else canonical) view.",
+ "type": [
+ "string",
+ "null"
+ ]
+}
changedOutput schema / properties / found / items / properties / joint_populations / description
Previous value: -"Per-ancestry frequency vector of gnomAD's joint exome + genome data, over the same samples as the overall an. Empty on gnomad_r3, gnomad_r2_1, and exac, which publish no joint data."New value: +"Per-ancestry frequency vector of gnomAD's joint exome + genome data, over the same samples as the overall an. Empty on every dataset but gnomad_r4: gnomad_r4_non_ukb and every other subset, gnomad_r3, gnomad_r2_1, and exac publish no joint data."
changedOutput schema / properties / found / items / properties / joint_populations / items / properties / id / description
Previous value: -"Genetic-ancestry group: afr, amr, asj, eas, fin, mid, nfe, sas, ami (genomes only), and the catch-all group — remaining on gnomad_r4, oth on gnomad_r3, gnomad_r2_1, and exac."New value: +"Genetic-ancestry group: afr, amr, asj, eas, fin, mid, nfe, sas, ami (genomes only), and the catch-all group — remaining on gnomad_r4 and gnomad_r4_non_ukb, oth on every other dataset."
addedOutput schema / properties / found / items / properties / lof
Added value: +{
+ "description": "LOFTEE's loss-of-function call on the consequence — HC high-confidence, LC low-confidence, or OS other splice; null when it made none. It describes transcript_id, which can be a minor isoform; primary_transcript carries the MANE Select (else canonical) view.",
+ "type": [
+ "string",
+ "null"
+ ]
+}
addedOutput schema / properties / found / items / properties / lof_curations
Added value: +{
+ "description": "gnomAD's manual loss-of-function curations of this variant, which can overturn a LOFTEE call; empty when gnomAD has none.",
+ "items": {
+ "additionalProperties": false,
+ "description": "One of gnomAD's manual loss-of-function curations of the variant.",
+ "properties": {
+ "flags": {
+ "description": "The reasons the curators recorded, as gnomAD writes them (e.g. Weak Exon Conservation); empty when none.",
+ "items": {
+ "type": "string"
+ },
+ "type": "array"
+ },
+ "gene_id": {
+ "description": "Ensembl gene ID the curation is for.",
+ "type": "string"
+ },
+ "gene_symbol": {
+ "description": "Its gene symbol; null when gnomAD gives none.",
+ "type": [
+ "string",
+ "null"
+ ]
+ },
+ "project": {
+ "description": "The curation project the verdict comes from (e.g. metabolic_conditions_genes).",
+ "type": "string"
+ },
+ "verdict": {
+ "description": "The curators’ verdict (e.g. LoF, Likely LoF, Not LoF).",
+ "type": "string"
+ }
+ },
+ "required": [
+ "gene_id",
+ "gene_symbol",
+ "verdict",
+ "flags",
+ "project"
+ ],
+ "type": "object"
+ },
+ "type": "array"
+}
addedOutput schema / properties / found / items / properties / lof_filter
Added value: +{
+ "description": "The LOFTEE filter that made that call low-confidence (e.g. END_TRUNC); null when none. It describes transcript_id, which can be a minor isoform; primary_transcript carries the MANE Select (else canonical) view.",
+ "type": [
+ "string",
+ "null"
+ ]
+}
addedOutput schema / properties / found / items / properties / lof_flags
Added value: +{
+ "description": "LOFTEE's flags on that call, as gnomAD writes them (e.g. PHYLOCSF_WEAK); null when none. It describes transcript_id, which can be a minor isoform; primary_transcript carries the MANE Select (else canonical) view.",
+ "type": [
+ "string",
+ "null"
+ ]
+}
changedOutput schema / properties / found / items / properties / populations / items / properties / id / description
Previous value: -"Genetic-ancestry group: afr, amr, asj, eas, fin, mid, nfe, sas, ami (genomes only), and the catch-all group — remaining on gnomad_r4, oth on gnomad_r3, gnomad_r2_1, and exac."New value: +"Genetic-ancestry group: afr, amr, asj, eas, fin, mid, nfe, sas, ami (genomes only), and the catch-all group — remaining on gnomad_r4 and gnomad_r4_non_ukb, oth on every other dataset."
changedOutput schema / properties / found / items / properties / primary_transcript / anyOf
Previous value: -[
- {
- "additionalProperties": false,
- "description": "The variant's consequence on its gene's primary transcript.",
- "properties": {
- "consequence": {
- "description": "Most severe VEP consequence term on this transcript; null when none.",
- "type": [
- "string",
- "null"
- ]
- },
- "hgvsc": {
- "description": "HGVS coding or transcript notation on this transcript (e.g. c.*9G>T); null when none.",
- "type": [
- "string",
- "null"
- ]
- },
- "hgvsp": {
- "description": "HGVS protein notation on this transcript (e.g. p.Glu136Ter); null when gnomAD gives none, as for a UTR or intronic change.",
- "type": [
- "string",
- "null"
- ]
- },
- "is_mane_select": {
- "description": "True when this is the gene's MANE Select transcript. For the canonical entry standing in: null where gnomAD reports no MANE status — a gene without a MANE Select (such as a lncRNA) on any dataset, and every gene on gnomad_r2_1 and exac (GRCh37) — else false.",
- "type": [
- "boolean",
- "null"
- ]
- },
- "lof": {
- "description": "LOFTEE's loss-of-function call on this transcript (e.g. HC high-confidence, LC low-confidence); null when it made none.",
- "type": [
- "string",
- "null"
- ]
- },
- "transcript_id": {
- "description": "Ensembl transcript ID (unversioned).",
- "type": "string"
- }
- },
- "required": [
- "transcript_id",
- "is_mane_select",
- "consequence",
- "hgvsc",
- "hgvsp",
- "lof"
- ],
- "type": "object"
- },
- {
- "type": "null"
- }
-]New value: +[
+ {
+ "additionalProperties": false,
+ "description": "The variant's consequence on its gene's primary transcript.",
+ "properties": {
+ "consequence": {
+ "description": "Most severe VEP consequence term on this transcript; null when none.",
+ "type": [
+ "string",
+ "null"
+ ]
+ },
+ "hgvsc": {
+ "description": "HGVS coding or transcript notation on this transcript (e.g. c.*9G>T); null when none.",
+ "type": [
+ "string",
+ "null"
+ ]
+ },
+ "hgvsp": {
+ "description": "HGVS protein notation on this transcript (e.g. p.Glu136Ter); null when gnomAD gives none, as for a UTR or intronic change.",
+ "type": [
+ "string",
+ "null"
+ ]
+ },
+ "is_mane_select": {
+ "description": "True when this is the gene's MANE Select transcript. For the canonical entry standing in: null where gnomAD reports no MANE status — a gene without a MANE Select (such as a lncRNA) on any dataset, and every gene on a GRCh37 dataset (gnomad_r2_1, its subsets, and exac) — else false.",
+ "type": [
+ "boolean",
+ "null"
+ ]
+ },
+ "lof": {
+ "description": "LOFTEE's loss-of-function call on this transcript (e.g. HC high-confidence, LC low-confidence); null when it made none.",
+ "type": [
+ "string",
+ "null"
+ ]
+ },
+ "lof_filter": {
+ "description": "The LOFTEE filter that made the call on this transcript low-confidence (e.g. END_TRUNC); null when none.",
+ "type": [
+ "string",
+ "null"
+ ]
+ },
+ "lof_flags": {
+ "description": "LOFTEE's flags on the call on this transcript, as gnomAD writes them (e.g. PHYLOCSF_WEAK); null when none.",
+ "type": [
+ "string",
+ "null"
+ ]
+ },
+ "transcript_id": {
+ "description": "Ensembl transcript ID (unversioned).",
+ "type": "string"
+ }
+ },
+ "required": [
+ "transcript_id",
+ "is_mane_select",
+ "consequence",
+ "hgvsc",
+ "hgvsp",
+ "lof",
+ "lof_filter",
+ "lof_flags"
+ ],
+ "type": "object"
+ },
+ {
+ "type": "null"
+ }
+]
changedOutput schema / properties / found / items / required
Previous value: -[
- "variant_id",
- "rsids",
- "reference_genome",
- "dataset",
- "ac",
- "an",
- "af",
- "homozygote_count",
- "hemizygote_count",
- "populations",
- "joint_populations",
- "callsets",
- "source",
- "flags",
- "qc_status",
- "consequence",
- "transcript_id",
- "primary_transcript",
- "gene_symbol",
- "in_silico",
- "clinvar",
- "clinvar_unavailable"
-]New value: +[
+ "variant_id",
+ "rsids",
+ "reference_genome",
+ "dataset",
+ "ac",
+ "an",
+ "af",
+ "homozygote_count",
+ "hemizygote_count",
+ "faf95",
+ "populations",
+ "joint_populations",
+ "callsets",
+ "source",
+ "flags",
+ "qc_status",
+ "consequence",
+ "transcript_id",
+ "hgvsc",
+ "hgvsp",
+ "lof",
+ "lof_filter",
+ "lof_flags",
+ "primary_transcript",
+ "gene_symbol",
+ "lof_curations",
+ "in_silico",
+ "clinvar",
+ "clinvar_unavailable"
+]
changedOutput schema / properties / notice / description
Previous value: -"Non-fatal notice when optional ClinVar annotation was unavailable."New value: +"Non-fatal notice when optional ClinVar annotation was unavailable, and when the dataset is a gnomad_r4 or gnomad_r3 subset, whose records carry no filtering allele frequency of their own (it names the parent release)."