← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 10-73499129-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73499129&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "USP54",
"hgnc_id": 23513,
"hgvs_c": "c.4621G>A",
"hgvs_p": "p.Gly1541Arg",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001391941.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PPP3CB-AS1",
"hgnc_id": 50750,
"hgvs_c": "n.1206-466C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000422977.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 19,
"alphamissense_prediction": null,
"alphamissense_score": 0.1381,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08252009749412537,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1684,
"aa_ref": "G",
"aa_start": 1519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6792,
"cdna_start": 5201,
"cds_end": null,
"cds_length": 5055,
"cds_start": 4555,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001391956.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4555G>A",
"hgvs_p": "p.Gly1519Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000687698.1",
"protein_coding": true,
"protein_id": "NP_001378885.1",
"strand": false,
"transcript": "NM_001391956.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1684,
"aa_ref": "G",
"aa_start": 1519,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6792,
"cdna_start": 5201,
"cds_end": null,
"cds_length": 5055,
"cds_start": 4555,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000687698.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4555G>A",
"hgvs_p": "p.Gly1519Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001391956.1",
"protein_coding": true,
"protein_id": "ENSP00000510226.1",
"strand": false,
"transcript": "ENST00000687698.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 837,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5688,
"cdna_start": null,
"cds_end": null,
"cds_length": 2514,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000422491.7",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.*1520G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407368.4",
"strand": false,
"transcript": "ENST00000422491.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2541,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000422977.3",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.1206-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000422977.3",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1706,
"aa_ref": "G",
"aa_start": 1541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6960,
"cdna_start": 5369,
"cds_end": null,
"cds_length": 5121,
"cds_start": 4621,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001391941.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4621G>A",
"hgvs_p": "p.Gly1541Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378870.1",
"strand": false,
"transcript": "NM_001391941.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1684,
"aa_ref": "G",
"aa_start": 1519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6464,
"cdna_start": 4873,
"cds_end": null,
"cds_length": 5055,
"cds_start": 4555,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001391953.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4555G>A",
"hgvs_p": "p.Gly1519Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378882.1",
"strand": false,
"transcript": "NM_001391953.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1684,
"aa_ref": "G",
"aa_start": 1519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6208,
"cdna_start": 4617,
"cds_end": null,
"cds_length": 5055,
"cds_start": 4555,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_152586.4",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4555G>A",
"hgvs_p": "p.Gly1519Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_689799.3",
"strand": false,
"transcript": "NM_152586.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1684,
"aa_ref": "G",
"aa_start": 1519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6247,
"cdna_start": 4656,
"cds_end": null,
"cds_length": 5055,
"cds_start": 4555,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000339859.8",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4555G>A",
"hgvs_p": "p.Gly1519Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345216.4",
"strand": false,
"transcript": "ENST00000339859.8",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1649,
"aa_ref": "G",
"aa_start": 1484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6328,
"cdna_start": 4737,
"cds_end": null,
"cds_length": 4950,
"cds_start": 4450,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000928943.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4450G>A",
"hgvs_p": "p.Gly1484Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599002.1",
"strand": false,
"transcript": "ENST00000928943.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1649,
"aa_ref": "G",
"aa_start": 1484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6657,
"cdna_start": 5066,
"cds_end": null,
"cds_length": 4950,
"cds_start": 4450,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000928945.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4450G>A",
"hgvs_p": "p.Gly1484Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599004.1",
"strand": false,
"transcript": "ENST00000928945.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1644,
"aa_ref": "G",
"aa_start": 1479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6776,
"cdna_start": 5197,
"cds_end": null,
"cds_length": 4935,
"cds_start": 4435,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000689425.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4435G>A",
"hgvs_p": "p.Gly1479Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508413.1",
"strand": false,
"transcript": "ENST00000689425.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1637,
"aa_ref": "G",
"aa_start": 1472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6067,
"cdna_start": 4476,
"cds_end": null,
"cds_length": 4914,
"cds_start": 4414,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001391949.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4414G>A",
"hgvs_p": "p.Gly1472Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378878.1",
"strand": false,
"transcript": "NM_001391949.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1637,
"aa_ref": "G",
"aa_start": 1472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6631,
"cdna_start": 5040,
"cds_end": null,
"cds_length": 4914,
"cds_start": 4414,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001391952.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4414G>A",
"hgvs_p": "p.Gly1472Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378881.1",
"strand": false,
"transcript": "NM_001391952.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1637,
"aa_ref": "G",
"aa_start": 1472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6758,
"cdna_start": 5179,
"cds_end": null,
"cds_length": 4914,
"cds_start": 4414,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000681793.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4414G>A",
"hgvs_p": "p.Gly1472Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505692.1",
"strand": false,
"transcript": "ENST00000681793.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1627,
"aa_ref": "G",
"aa_start": 1462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6723,
"cdna_start": 5132,
"cds_end": null,
"cds_length": 4884,
"cds_start": 4384,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001378208.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4384G>A",
"hgvs_p": "p.Gly1462Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365137.1",
"strand": false,
"transcript": "NM_001378208.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1627,
"aa_ref": "G",
"aa_start": 1462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6768,
"cdna_start": 5177,
"cds_end": null,
"cds_length": 4884,
"cds_start": 4384,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001378209.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4384G>A",
"hgvs_p": "p.Gly1462Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365138.1",
"strand": false,
"transcript": "NM_001378209.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1627,
"aa_ref": "G",
"aa_start": 1462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6057,
"cdna_start": 4466,
"cds_end": null,
"cds_length": 4884,
"cds_start": 4384,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001378210.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4384G>A",
"hgvs_p": "p.Gly1462Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365139.1",
"strand": false,
"transcript": "NM_001378210.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1627,
"aa_ref": "G",
"aa_start": 1462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6601,
"cdna_start": 5010,
"cds_end": null,
"cds_length": 4884,
"cds_start": 4384,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001391945.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4384G>A",
"hgvs_p": "p.Gly1462Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378874.1",
"strand": false,
"transcript": "NM_001391945.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1627,
"aa_ref": "G",
"aa_start": 1462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6263,
"cdna_start": 4672,
"cds_end": null,
"cds_length": 4884,
"cds_start": 4384,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001391946.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4384G>A",
"hgvs_p": "p.Gly1462Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378875.1",
"strand": false,
"transcript": "NM_001391946.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1627,
"aa_ref": "G",
"aa_start": 1462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6037,
"cdna_start": 4446,
"cds_end": null,
"cds_length": 4884,
"cds_start": 4384,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001391948.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4384G>A",
"hgvs_p": "p.Gly1462Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378877.1",
"strand": false,
"transcript": "NM_001391948.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1627,
"aa_ref": "G",
"aa_start": 1462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6631,
"cdna_start": 5040,
"cds_end": null,
"cds_length": 4884,
"cds_start": 4384,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001391954.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4384G>A",
"hgvs_p": "p.Gly1462Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378883.1",
"strand": false,
"transcript": "NM_001391954.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1627,
"aa_ref": "G",
"aa_start": 1462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6621,
"cdna_start": 5030,
"cds_end": null,
"cds_length": 4884,
"cds_start": 4384,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001391955.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4384G>A",
"hgvs_p": "p.Gly1462Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378884.1",
"strand": false,
"transcript": "NM_001391955.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1627,
"aa_ref": "G",
"aa_start": 1462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6752,
"cdna_start": 5161,
"cds_end": null,
"cds_length": 4884,
"cds_start": 4384,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000874399.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4384G>A",
"hgvs_p": "p.Gly1462Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544458.1",
"strand": false,
"transcript": "ENST00000874399.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1627,
"aa_ref": "G",
"aa_start": 1462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6672,
"cdna_start": 5081,
"cds_end": null,
"cds_length": 4884,
"cds_start": 4384,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000928932.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4384G>A",
"hgvs_p": "p.Gly1462Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598991.1",
"strand": false,
"transcript": "ENST00000928932.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1627,
"aa_ref": "G",
"aa_start": 1462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6049,
"cdna_start": 4458,
"cds_end": null,
"cds_length": 4884,
"cds_start": 4384,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000928935.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4384G>A",
"hgvs_p": "p.Gly1462Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598994.1",
"strand": false,
"transcript": "ENST00000928935.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1627,
"aa_ref": "G",
"aa_start": 1462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6275,
"cdna_start": 4684,
"cds_end": null,
"cds_length": 4884,
"cds_start": 4384,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000928936.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4384G>A",
"hgvs_p": "p.Gly1462Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598995.1",
"strand": false,
"transcript": "ENST00000928936.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1627,
"aa_ref": "G",
"aa_start": 1462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6661,
"cdna_start": 5077,
"cds_end": null,
"cds_length": 4884,
"cds_start": 4384,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000928948.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4384G>A",
"hgvs_p": "p.Gly1462Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599007.1",
"strand": false,
"transcript": "ENST00000928948.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1627,
"aa_ref": "G",
"aa_start": 1462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7041,
"cdna_start": 5450,
"cds_end": null,
"cds_length": 4884,
"cds_start": 4384,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000928949.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4384G>A",
"hgvs_p": "p.Gly1462Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599008.1",
"strand": false,
"transcript": "ENST00000928949.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1622,
"aa_ref": "G",
"aa_start": 1457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6042,
"cdna_start": 4451,
"cds_end": null,
"cds_length": 4869,
"cds_start": 4369,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001320437.2",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4369G>A",
"hgvs_p": "p.Gly1457Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307366.1",
"strand": false,
"transcript": "NM_001320437.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1622,
"aa_ref": "G",
"aa_start": 1457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6083,
"cdna_start": 4926,
"cds_end": null,
"cds_length": 4869,
"cds_start": 4369,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000874404.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4369G>A",
"hgvs_p": "p.Gly1457Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544463.1",
"strand": false,
"transcript": "ENST00000874404.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1622,
"aa_ref": "G",
"aa_start": 1457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6076,
"cdna_start": 4485,
"cds_end": null,
"cds_length": 4869,
"cds_start": 4369,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000928950.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4369G>A",
"hgvs_p": "p.Gly1457Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599009.1",
"strand": false,
"transcript": "ENST00000928950.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1622,
"aa_ref": "G",
"aa_start": 1457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6703,
"cdna_start": 5112,
"cds_end": null,
"cds_length": 4869,
"cds_start": 4369,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000928951.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4369G>A",
"hgvs_p": "p.Gly1457Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599010.1",
"strand": false,
"transcript": "ENST00000928951.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1609,
"aa_ref": "G",
"aa_start": 1444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6478,
"cdna_start": 4887,
"cds_end": null,
"cds_length": 4830,
"cds_start": 4330,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000874403.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4330G>A",
"hgvs_p": "p.Gly1444Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544462.1",
"strand": false,
"transcript": "ENST00000874403.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1605,
"aa_ref": "G",
"aa_start": 1440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6546,
"cdna_start": 4955,
"cds_end": null,
"cds_length": 4818,
"cds_start": 4318,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000928952.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4318G>A",
"hgvs_p": "p.Gly1440Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599011.1",
"strand": false,
"transcript": "ENST00000928952.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1597,
"aa_ref": "G",
"aa_start": 1432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6746,
"cdna_start": 5158,
"cds_end": null,
"cds_length": 4794,
"cds_start": 4294,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000874402.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4294G>A",
"hgvs_p": "p.Gly1432Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544461.1",
"strand": false,
"transcript": "ENST00000874402.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1587,
"aa_ref": "G",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6143,
"cdna_start": 4552,
"cds_end": null,
"cds_length": 4764,
"cds_start": 4264,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001350995.2",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4264G>A",
"hgvs_p": "p.Gly1422Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337924.1",
"strand": false,
"transcript": "NM_001350995.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1587,
"aa_ref": "G",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5917,
"cdna_start": 4326,
"cds_end": null,
"cds_length": 4764,
"cds_start": 4264,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001391942.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4264G>A",
"hgvs_p": "p.Gly1422Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378871.1",
"strand": false,
"transcript": "NM_001391942.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1587,
"aa_ref": "G",
"aa_start": 1422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6257,
"cdna_start": 4666,
"cds_end": null,
"cds_length": 4764,
"cds_start": 4264,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000946545.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4264G>A",
"hgvs_p": "p.Gly1422Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616604.1",
"strand": false,
"transcript": "ENST00000946545.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1583,
"aa_ref": "G",
"aa_start": 1418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6608,
"cdna_start": 5017,
"cds_end": null,
"cds_length": 4752,
"cds_start": 4252,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000928933.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4252G>A",
"hgvs_p": "p.Gly1418Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598992.1",
"strand": false,
"transcript": "ENST00000928933.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1582,
"aa_ref": "G",
"aa_start": 1417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5901,
"cdna_start": 4310,
"cds_end": null,
"cds_length": 4749,
"cds_start": 4249,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000928944.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4249G>A",
"hgvs_p": "p.Gly1417Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599003.1",
"strand": false,
"transcript": "ENST00000928944.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "G",
"aa_start": 1415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5896,
"cdna_start": 4305,
"cds_end": null,
"cds_length": 4743,
"cds_start": 4243,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001391947.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4243G>A",
"hgvs_p": "p.Gly1415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378876.1",
"strand": false,
"transcript": "NM_001391947.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "G",
"aa_start": 1415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6122,
"cdna_start": 4531,
"cds_end": null,
"cds_length": 4743,
"cds_start": 4243,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001391950.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4243G>A",
"hgvs_p": "p.Gly1415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378879.1",
"strand": false,
"transcript": "NM_001391950.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "G",
"aa_start": 1415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6834,
"cdna_start": 5251,
"cds_end": null,
"cds_length": 4743,
"cds_start": 4243,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000874400.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4243G>A",
"hgvs_p": "p.Gly1415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544459.1",
"strand": false,
"transcript": "ENST00000874400.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "G",
"aa_start": 1415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6224,
"cdna_start": 4633,
"cds_end": null,
"cds_length": 4743,
"cds_start": 4243,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000874401.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4243G>A",
"hgvs_p": "p.Gly1415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544460.1",
"strand": false,
"transcript": "ENST00000874401.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "G",
"aa_start": 1415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5911,
"cdna_start": 4320,
"cds_end": null,
"cds_length": 4743,
"cds_start": 4243,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000928934.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4243G>A",
"hgvs_p": "p.Gly1415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598993.1",
"strand": false,
"transcript": "ENST00000928934.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "G",
"aa_start": 1415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6470,
"cdna_start": 4879,
"cds_end": null,
"cds_length": 4743,
"cds_start": 4243,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000928937.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4243G>A",
"hgvs_p": "p.Gly1415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598996.1",
"strand": false,
"transcript": "ENST00000928937.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "G",
"aa_start": 1415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6590,
"cdna_start": 4999,
"cds_end": null,
"cds_length": 4743,
"cds_start": 4243,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000928939.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4243G>A",
"hgvs_p": "p.Gly1415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598998.1",
"strand": false,
"transcript": "ENST00000928939.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "G",
"aa_start": 1415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6130,
"cdna_start": 4539,
"cds_end": null,
"cds_length": 4743,
"cds_start": 4243,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000928940.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4243G>A",
"hgvs_p": "p.Gly1415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598999.1",
"strand": false,
"transcript": "ENST00000928940.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "G",
"aa_start": 1415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6450,
"cdna_start": 4859,
"cds_end": null,
"cds_length": 4743,
"cds_start": 4243,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000928946.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4243G>A",
"hgvs_p": "p.Gly1415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599005.1",
"strand": false,
"transcript": "ENST00000928946.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "G",
"aa_start": 1415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6196,
"cdna_start": 4605,
"cds_end": null,
"cds_length": 4743,
"cds_start": 4243,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000928947.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4243G>A",
"hgvs_p": "p.Gly1415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599006.1",
"strand": false,
"transcript": "ENST00000928947.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1540,
"aa_ref": "G",
"aa_start": 1375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6557,
"cdna_start": 4966,
"cds_end": null,
"cds_length": 4623,
"cds_start": 4123,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000946544.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4123G>A",
"hgvs_p": "p.Gly1375Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616603.1",
"strand": false,
"transcript": "ENST00000946544.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1535,
"aa_ref": "G",
"aa_start": 1370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6335,
"cdna_start": 4747,
"cds_end": null,
"cds_length": 4608,
"cds_start": 4108,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000928938.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4108G>A",
"hgvs_p": "p.Gly1370Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598997.1",
"strand": false,
"transcript": "ENST00000928938.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1534,
"aa_ref": "G",
"aa_start": 1369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5758,
"cdna_start": 4167,
"cds_end": null,
"cds_length": 4605,
"cds_start": 4105,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001391951.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4105G>A",
"hgvs_p": "p.Gly1369Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378880.1",
"strand": false,
"transcript": "NM_001391951.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1477,
"aa_ref": "G",
"aa_start": 1312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6156,
"cdna_start": 4572,
"cds_end": null,
"cds_length": 4434,
"cds_start": 3934,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000928941.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.3934G>A",
"hgvs_p": "p.Gly1312Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599000.1",
"strand": false,
"transcript": "ENST00000928941.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1430,
"aa_ref": "G",
"aa_start": 1265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5672,
"cdna_start": 4081,
"cds_end": null,
"cds_length": 4293,
"cds_start": 3793,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000928942.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.3793G>A",
"hgvs_p": "p.Gly1265Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599001.1",
"strand": false,
"transcript": "ENST00000928942.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1413,
"aa_ref": "K",
"aa_start": 1405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6554,
"cdna_start": 4980,
"cds_end": null,
"cds_length": 4242,
"cds_start": 4215,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000680396.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.4215G>A",
"hgvs_p": "p.Lys1405Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505747.1",
"strand": false,
"transcript": "ENST00000680396.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 819,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6631,
"cdna_start": null,
"cds_end": null,
"cds_length": 2460,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000691043.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.*1845G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508625.1",
"strand": false,
"transcript": "ENST00000691043.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 797,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6854,
"cdna_start": null,
"cds_end": null,
"cds_length": 2394,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000687418.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.*2116G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510416.1",
"strand": false,
"transcript": "ENST00000687418.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 740,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6452,
"cdna_start": null,
"cds_end": null,
"cds_length": 2223,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000693251.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.*1845G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510202.1",
"strand": false,
"transcript": "ENST00000693251.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 634,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5201,
"cdna_start": null,
"cds_end": null,
"cds_length": 1905,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000424265.5",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.*1704G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399972.1",
"strand": false,
"transcript": "ENST00000424265.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 411,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4674,
"cdna_start": null,
"cds_end": null,
"cds_length": 1236,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000466048.6",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.*1845G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473466.1",
"strand": false,
"transcript": "ENST00000466048.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 357,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4370,
"cdna_start": null,
"cds_end": null,
"cds_length": 1074,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000418501.5",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "c.*1704G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404644.1",
"strand": false,
"transcript": "ENST00000418501.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4773,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000497106.5",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "n.3939G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000497106.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6657,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000685297.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "n.*4081G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508456.1",
"strand": false,
"transcript": "ENST00000685297.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6401,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NR_135249.2",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "n.4810G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_135249.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5530,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NR_135250.2",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "n.3939G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_135250.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6138,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NR_146997.2",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "n.4547G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_146997.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5997,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NR_146998.2",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "n.4406G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_146998.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6542,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NR_165442.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "n.4951G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_165442.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6305,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NR_165443.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "n.4714G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_165443.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6657,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000685297.1",
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"hgvs_c": "n.*4081G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508456.1",
"strand": false,
"transcript": "ENST00000685297.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 545,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000439792.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.312+262C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000439792.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000442133.10",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.470-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000442133.10",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 747,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000593790.5",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.411+262C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000593790.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 650,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000595069.5",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.195-466C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000595069.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2084,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000595935.3",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.893-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000595935.3",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 768,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000596320.5",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.332+262C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000596320.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 770,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000597958.5",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.198-466C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000597958.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1088,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000600206.6",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.444-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000600206.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1058,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000600607.5",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.612-466C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000600607.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1528,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000600887.3",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.1194-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000600887.3",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 956,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000610317.5",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.592+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000610317.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3647,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000620302.3",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.987+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000620302.3",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1443,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000620432.2",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.1079+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000620432.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2465,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000620559.2",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.1432+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000620559.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 850,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000687563.3",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.479-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000687563.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000690541.3",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.889-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000690541.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 896,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000700757.2",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.440-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000700757.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1210,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000700845.2",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.874-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000700845.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 841,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000700942.2",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.470-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000700942.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 541,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847337.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.175-466C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847337.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 974,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847338.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.543+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847338.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1184,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847339.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.829-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847339.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 964,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847340.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.507+262C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847340.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1822,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847341.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.889-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847341.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847342.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.1110+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847342.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1467,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847343.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.542-466C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847343.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1027,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847344.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.452-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847344.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1465,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847345.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.1008+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847345.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 680,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847346.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.224-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847346.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 677,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847347.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.219-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847347.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1114,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847348.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.657+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847348.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1322,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847349.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.866-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847349.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1231,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847350.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.660+262C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847350.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 799,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847351.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.342+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847351.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1396,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847352.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.829-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847352.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 999,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847353.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.542+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847353.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1116,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847354.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.187-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847354.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1330,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847355.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.404+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847355.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 729,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847356.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.273-466C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847356.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1423,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847357.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.494-466C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847357.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1505,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847358.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.1048+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847358.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1491,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847359.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.562-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847359.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 811,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847360.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.355-466C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847360.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 730,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847361.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.172-466C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847361.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1310,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847362.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.1023+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847362.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 750,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847363.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.463-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847363.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 605,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847364.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.237-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847364.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 523,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847365.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.237-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847365.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847366.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.224-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847366.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 717,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847367.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.353+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847367.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1367,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847368.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.1080+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847368.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1149,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847369.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.863-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847369.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 944,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847370.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.657+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847370.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 668,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847371.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.305-466C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847371.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847372.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.1431+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847372.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 859,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847373.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.574+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847373.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 797,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847374.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.433+262C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847374.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 956,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847375.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.593-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847375.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 429,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847376.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.66-466C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847376.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1261,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847377.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.905+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847377.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 495,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847378.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.145-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847378.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 640,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847379.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.354-466C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847379.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 716,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847380.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.355-466C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847380.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 535,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847381.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.206-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847381.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 942,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847382.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.609+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847382.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1348,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847383.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.1016+262C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847383.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 868,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847384.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.539-466C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847384.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 771,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847385.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.440-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847385.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 550,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847386.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.219-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847386.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 536,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847387.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.305-466C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847387.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 542,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847388.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.436+262C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847388.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1013,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847389.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.780-466C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847389.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 589,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847390.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.355-466C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847390.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 546,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000847391.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.441-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000847391.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3095,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_132103.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.409-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_132103.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_132104.1",
"gene_hgnc_id": 50750,
"gene_symbol": "PPP3CB-AS1",
"hgvs_c": "n.409-466C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_132104.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs142939779",
"effect": "missense_variant",
"frequency_reference_population": 0.000011772958,
"gene_hgnc_id": 23513,
"gene_symbol": "USP54",
"gnomad_exomes_ac": 17,
"gnomad_exomes_af": 0.0000116297,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131499,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.208,
"pos": 73499129,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.171,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001391941.1"
}
]
}