← 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: 17-59028616-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=59028616&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "TRIM37",
"hgnc_id": 7523,
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_001353084.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.5,
"chr": "17",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Mulibrey nanism syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 964,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4489,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2895,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_015294.6",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262294.12",
"protein_coding": true,
"protein_id": "NP_056109.1",
"strand": false,
"transcript": "NM_015294.6",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 964,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4489,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2895,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000262294.12",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015294.6",
"protein_coding": true,
"protein_id": "ENSP00000262294.7",
"strand": false,
"transcript": "ENST00000262294.12",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 964,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3622,
"cdna_start": 2516,
"cds_end": null,
"cds_length": 2895,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000393066.7",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376785.3",
"strand": false,
"transcript": "ENST00000393066.7",
"transcript_support_level": 1
},
{
"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": 4310,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000577554.5",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "n.*1928C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462340.1",
"strand": false,
"transcript": "ENST00000577554.5",
"transcript_support_level": 1
},
{
"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": 4310,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000577554.5",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "n.*1928C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462340.1",
"strand": false,
"transcript": "ENST00000577554.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 981,
"aa_ref": "R",
"aa_start": 703,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4386,
"cdna_start": 2378,
"cds_end": null,
"cds_length": 2946,
"cds_start": 2107,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000938636.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2107C>T",
"hgvs_p": "p.Arg703*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608695.1",
"strand": false,
"transcript": "ENST00000938636.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 980,
"aa_ref": "R",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4365,
"cdna_start": 2333,
"cds_end": null,
"cds_length": 2943,
"cds_start": 2077,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000964654.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2077C>T",
"hgvs_p": "p.Arg693*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634713.1",
"strand": false,
"transcript": "ENST00000964654.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 973,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4516,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2922,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001353084.2",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340013.1",
"strand": false,
"transcript": "NM_001353084.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 973,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4496,
"cdna_start": 2455,
"cds_end": null,
"cds_length": 2922,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000885247.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555306.1",
"strand": false,
"transcript": "ENST00000885247.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 968,
"aa_ref": "R",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4476,
"cdna_start": 2466,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2068,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000964648.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2068C>T",
"hgvs_p": "p.Arg690*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634707.1",
"strand": false,
"transcript": "ENST00000964648.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 964,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3583,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2895,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001005207.5",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005207.1",
"strand": false,
"transcript": "NM_001005207.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 956,
"aa_ref": "R",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4316,
"cdna_start": 2280,
"cds_end": null,
"cds_length": 2871,
"cds_start": 2005,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000885260.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2005C>T",
"hgvs_p": "p.Arg669*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555319.1",
"strand": false,
"transcript": "ENST00000885260.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 947,
"aa_ref": "R",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4438,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2005,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001353086.2",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2005C>T",
"hgvs_p": "p.Arg669*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340015.1",
"strand": false,
"transcript": "NM_001353086.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 947,
"aa_ref": "R",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4448,
"cdna_start": 2433,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2005,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000885243.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2005C>T",
"hgvs_p": "p.Arg669*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555302.1",
"strand": false,
"transcript": "ENST00000885243.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 943,
"aa_ref": "R",
"aa_start": 665,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4408,
"cdna_start": 2394,
"cds_end": null,
"cds_length": 2832,
"cds_start": 1993,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000885246.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1993C>T",
"hgvs_p": "p.Arg665*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555305.1",
"strand": false,
"transcript": "ENST00000885246.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 939,
"aa_ref": "R",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4414,
"cdna_start": 2373,
"cds_end": null,
"cds_length": 2820,
"cds_start": 1954,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001353082.2",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340011.1",
"strand": false,
"transcript": "NM_001353082.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 939,
"aa_ref": "R",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4274,
"cdna_start": 2233,
"cds_end": null,
"cds_length": 2820,
"cds_start": 1954,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000885256.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555315.1",
"strand": false,
"transcript": "ENST00000885256.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 930,
"aa_ref": "R",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4387,
"cdna_start": 2373,
"cds_end": null,
"cds_length": 2793,
"cds_start": 1954,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001320987.3",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307916.1",
"strand": false,
"transcript": "NM_001320987.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 930,
"aa_ref": "R",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3548,
"cdna_start": 2319,
"cds_end": null,
"cds_length": 2793,
"cds_start": 1954,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000393065.6",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376784.2",
"strand": false,
"transcript": "ENST00000393065.6",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 930,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4260,
"cdna_start": 2348,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000885250.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555309.1",
"strand": false,
"transcript": "ENST00000885250.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 925,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4372,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2778,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001320988.3",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307917.1",
"strand": false,
"transcript": "NM_001320988.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 925,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3466,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2778,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001320989.3",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307918.1",
"strand": false,
"transcript": "NM_001320989.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 925,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4368,
"cdna_start": 2469,
"cds_end": null,
"cds_length": 2778,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000885244.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555303.1",
"strand": false,
"transcript": "ENST00000885244.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 925,
"aa_ref": "R",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4241,
"cdna_start": 2231,
"cds_end": null,
"cds_length": 2778,
"cds_start": 1939,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000885254.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1939C>T",
"hgvs_p": "p.Arg647*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555313.1",
"strand": false,
"transcript": "ENST00000885254.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 922,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4388,
"cdna_start": 2500,
"cds_end": null,
"cds_length": 2769,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000938624.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608683.1",
"strand": false,
"transcript": "ENST00000938624.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 922,
"aa_ref": "R",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4348,
"cdna_start": 2307,
"cds_end": null,
"cds_length": 2769,
"cds_start": 1903,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000938626.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1903C>T",
"hgvs_p": "p.Arg635*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608685.1",
"strand": false,
"transcript": "ENST00000938626.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 921,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4238,
"cdna_start": 2353,
"cds_end": null,
"cds_length": 2766,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000885249.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555308.1",
"strand": false,
"transcript": "ENST00000885249.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4214,
"cdna_start": 2200,
"cds_end": null,
"cds_length": 2742,
"cds_start": 1903,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000938630.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1903C>T",
"hgvs_p": "p.Arg635*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608689.1",
"strand": false,
"transcript": "ENST00000938630.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 911,
"aa_ref": "R",
"aa_start": 633,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4319,
"cdna_start": 2309,
"cds_end": null,
"cds_length": 2736,
"cds_start": 1897,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000964646.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1897C>T",
"hgvs_p": "p.Arg633*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634705.1",
"strand": false,
"transcript": "ENST00000964646.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 908,
"aa_ref": "R",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4183,
"cdna_start": 2286,
"cds_end": null,
"cds_length": 2727,
"cds_start": 2005,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000885255.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2005C>T",
"hgvs_p": "p.Arg669*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555314.1",
"strand": false,
"transcript": "ENST00000885255.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 904,
"aa_ref": "R",
"aa_start": 665,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4266,
"cdna_start": 2375,
"cds_end": null,
"cds_length": 2715,
"cds_start": 1993,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000938628.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1993C>T",
"hgvs_p": "p.Arg665*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608687.1",
"strand": false,
"transcript": "ENST00000938628.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 904,
"aa_ref": "R",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4192,
"cdna_start": 2311,
"cds_end": null,
"cds_length": 2715,
"cds_start": 2005,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000964649.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2005C>T",
"hgvs_p": "p.Arg669*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634708.1",
"strand": false,
"transcript": "ENST00000964649.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 903,
"aa_ref": "R",
"aa_start": 616,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4297,
"cdna_start": 2265,
"cds_end": null,
"cds_length": 2712,
"cds_start": 1846,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000938625.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1846C>T",
"hgvs_p": "p.Arg616*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608684.1",
"strand": false,
"transcript": "ENST00000938625.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 900,
"aa_ref": "R",
"aa_start": 665,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4149,
"cdna_start": 2268,
"cds_end": null,
"cds_length": 2703,
"cds_start": 1993,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000964653.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1993C>T",
"hgvs_p": "p.Arg665*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634712.1",
"strand": false,
"transcript": "ENST00000964653.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 899,
"aa_ref": "R",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4172,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 2700,
"cds_start": 1861,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000938631.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1861C>T",
"hgvs_p": "p.Arg621*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608690.1",
"strand": false,
"transcript": "ENST00000938631.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 894,
"aa_ref": "R",
"aa_start": 616,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4152,
"cdna_start": 2138,
"cds_end": null,
"cds_length": 2685,
"cds_start": 1846,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000885253.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1846C>T",
"hgvs_p": "p.Arg616*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555312.1",
"strand": false,
"transcript": "ENST00000885253.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 892,
"aa_ref": "R",
"aa_start": 614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4129,
"cdna_start": 2115,
"cds_end": null,
"cds_length": 2679,
"cds_start": 1840,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000885258.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1840C>T",
"hgvs_p": "p.Arg614*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555317.1",
"strand": false,
"transcript": "ENST00000885258.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 891,
"aa_ref": "R",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4143,
"cdna_start": 2246,
"cds_end": null,
"cds_length": 2676,
"cds_start": 1954,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000885252.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555311.1",
"strand": false,
"transcript": "ENST00000885252.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 887,
"aa_ref": "R",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4131,
"cdna_start": 2117,
"cds_end": null,
"cds_length": 2664,
"cds_start": 1825,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000885251.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1825C>T",
"hgvs_p": "p.Arg609*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555310.1",
"strand": false,
"transcript": "ENST00000885251.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 887,
"aa_ref": "R",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4128,
"cdna_start": 2251,
"cds_end": null,
"cds_length": 2664,
"cds_start": 1954,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000938634.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608693.1",
"strand": false,
"transcript": "ENST00000938634.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 882,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": 2331,
"cds_end": null,
"cds_length": 2649,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000885259.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555318.1",
"strand": false,
"transcript": "ENST00000885259.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 870,
"aa_ref": "R",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4201,
"cdna_start": 2316,
"cds_end": null,
"cds_length": 2613,
"cds_start": 1903,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000885245.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1903C>T",
"hgvs_p": "p.Arg635*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555304.1",
"strand": false,
"transcript": "ENST00000885245.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 860,
"aa_ref": "R",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4021,
"cdna_start": 2008,
"cds_end": null,
"cds_length": 2583,
"cds_start": 1744,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000938637.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1744C>T",
"hgvs_p": "p.Arg582*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608696.1",
"strand": false,
"transcript": "ENST00000938637.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 858,
"aa_ref": "R",
"aa_start": 580,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4057,
"cdna_start": 2043,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1738,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000938629.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Arg580*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608688.1",
"strand": false,
"transcript": "ENST00000938629.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 849,
"aa_ref": "R",
"aa_start": 614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4120,
"cdna_start": 2244,
"cds_end": null,
"cds_length": 2550,
"cds_start": 1840,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000964647.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1840C>T",
"hgvs_p": "p.Arg614*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634706.1",
"strand": false,
"transcript": "ENST00000964647.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 822,
"aa_ref": "R",
"aa_start": 544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3919,
"cdna_start": 1905,
"cds_end": null,
"cds_length": 2469,
"cds_start": 1630,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000885257.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1630C>T",
"hgvs_p": "p.Arg544*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555316.1",
"strand": false,
"transcript": "ENST00000885257.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 810,
"aa_ref": "R",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4299,
"cdna_start": 2285,
"cds_end": null,
"cds_length": 2433,
"cds_start": 1594,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001353085.2",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1594C>T",
"hgvs_p": "p.Arg532*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340014.1",
"strand": false,
"transcript": "NM_001353085.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 803,
"aa_ref": "R",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4448,
"cdna_start": 2551,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1690,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001320990.3",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1690C>T",
"hgvs_p": "p.Arg564*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307919.1",
"strand": false,
"transcript": "NM_001320990.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 788,
"aa_ref": "R",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3839,
"cdna_start": 1825,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1528,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000885248.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.Arg510*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555307.1",
"strand": false,
"transcript": "ENST00000885248.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 719,
"aa_ref": "R",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4506,
"cdna_start": 2492,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1321,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001353083.2",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1321C>T",
"hgvs_p": "p.Arg441*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340012.1",
"strand": false,
"transcript": "NM_001353083.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 718,
"aa_ref": "R",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3617,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1318,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000964651.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1318C>T",
"hgvs_p": "p.Arg440*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634710.1",
"strand": false,
"transcript": "ENST00000964651.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 998,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4900,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2997,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011524831.2",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523133.1",
"strand": false,
"transcript": "XM_011524831.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 995,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6236,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2988,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017024662.2",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880151.1",
"strand": false,
"transcript": "XM_017024662.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 989,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6609,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2970,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011524832.3",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523134.1",
"strand": false,
"transcript": "XM_011524832.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 986,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6209,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2961,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017024663.3",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880152.1",
"strand": false,
"transcript": "XM_017024663.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 981,
"aa_ref": "R",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3380,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 2946,
"cds_start": 2005,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011524833.2",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2005C>T",
"hgvs_p": "p.Arg669*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523135.1",
"strand": false,
"transcript": "XM_011524833.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 973,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3610,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2922,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_005257385.2",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257442.1",
"strand": false,
"transcript": "XM_005257385.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 972,
"aa_ref": "R",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4853,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2005,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047436106.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2005C>T",
"hgvs_p": "p.Arg669*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292062.1",
"strand": false,
"transcript": "XM_047436106.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 964,
"aa_ref": "R",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3329,
"cdna_start": 2373,
"cds_end": null,
"cds_length": 2895,
"cds_start": 1954,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011524834.2",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523136.1",
"strand": false,
"transcript": "XM_011524834.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 961,
"aa_ref": "R",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6134,
"cdna_start": 2373,
"cds_end": null,
"cds_length": 2886,
"cds_start": 1954,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047436107.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292063.1",
"strand": false,
"transcript": "XM_047436107.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 956,
"aa_ref": "R",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3559,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 2871,
"cds_start": 2005,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047436108.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2005C>T",
"hgvs_p": "p.Arg669*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292064.1",
"strand": false,
"transcript": "XM_047436108.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 955,
"aa_ref": "R",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4802,
"cdna_start": 2373,
"cds_end": null,
"cds_length": 2868,
"cds_start": 1954,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017024665.2",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880154.1",
"strand": false,
"transcript": "XM_017024665.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 955,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4771,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2868,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047436109.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292065.1",
"strand": false,
"transcript": "XM_047436109.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 952,
"aa_ref": "R",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6107,
"cdna_start": 2373,
"cds_end": null,
"cds_length": 2859,
"cds_start": 1954,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047436110.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292066.1",
"strand": false,
"transcript": "XM_047436110.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 950,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3965,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011524836.2",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523138.1",
"strand": false,
"transcript": "XM_011524836.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 947,
"aa_ref": "R",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3532,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2005,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017024667.2",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2005C>T",
"hgvs_p": "p.Arg669*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880156.1",
"strand": false,
"transcript": "XM_017024667.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 947,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6092,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047436111.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292067.1",
"strand": false,
"transcript": "XM_047436111.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 947,
"aa_ref": "R",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3278,
"cdna_start": 2322,
"cds_end": null,
"cds_length": 2844,
"cds_start": 1903,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047436112.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1903C>T",
"hgvs_p": "p.Arg635*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292068.1",
"strand": false,
"transcript": "XM_047436112.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 939,
"aa_ref": "R",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3508,
"cdna_start": 2373,
"cds_end": null,
"cds_length": 2820,
"cds_start": 1954,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047436113.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292069.1",
"strand": false,
"transcript": "XM_047436113.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 930,
"aa_ref": "R",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3481,
"cdna_start": 2373,
"cds_end": null,
"cds_length": 2793,
"cds_start": 1954,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047436114.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292070.1",
"strand": false,
"transcript": "XM_047436114.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 930,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3481,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047436115.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292071.1",
"strand": false,
"transcript": "XM_047436115.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 921,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3454,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2766,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047436116.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292072.1",
"strand": false,
"transcript": "XM_047436116.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4336,
"cdna_start": 2322,
"cds_end": null,
"cds_length": 2742,
"cds_start": 1903,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_017024669.3",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1903C>T",
"hgvs_p": "p.Arg635*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880158.1",
"strand": false,
"transcript": "XM_017024669.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 908,
"aa_ref": "R",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3415,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 2727,
"cds_start": 2005,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047436117.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2005C>T",
"hgvs_p": "p.Arg669*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292073.1",
"strand": false,
"transcript": "XM_047436117.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 907,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3158,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2724,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047436118.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292074.1",
"strand": false,
"transcript": "XM_047436118.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 904,
"aa_ref": "R",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4309,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 2715,
"cds_start": 2005,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047436119.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2005C>T",
"hgvs_p": "p.Arg669*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292075.1",
"strand": false,
"transcript": "XM_047436119.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 896,
"aa_ref": "R",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4285,
"cdna_start": 2373,
"cds_end": null,
"cds_length": 2691,
"cds_start": 1954,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047436120.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292076.1",
"strand": false,
"transcript": "XM_047436120.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 891,
"aa_ref": "R",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4270,
"cdna_start": 2373,
"cds_end": null,
"cds_length": 2676,
"cds_start": 1954,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017024670.3",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880159.1",
"strand": false,
"transcript": "XM_017024670.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 891,
"aa_ref": "R",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3364,
"cdna_start": 2373,
"cds_end": null,
"cds_length": 2676,
"cds_start": 1954,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047436121.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292077.1",
"strand": false,
"transcript": "XM_047436121.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 887,
"aa_ref": "R",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3352,
"cdna_start": 2373,
"cds_end": null,
"cds_length": 2664,
"cds_start": 1954,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047436122.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292078.1",
"strand": false,
"transcript": "XM_047436122.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 882,
"aa_ref": "R",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2649,
"cds_start": 2056,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047436123.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292079.1",
"strand": false,
"transcript": "XM_047436123.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 874,
"aa_ref": "R",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4219,
"cdna_start": 2322,
"cds_end": null,
"cds_length": 2625,
"cds_start": 1903,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047436124.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1903C>T",
"hgvs_p": "p.Arg635*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292080.1",
"strand": false,
"transcript": "XM_047436124.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 870,
"aa_ref": "R",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4207,
"cdna_start": 2322,
"cds_end": null,
"cds_length": 2613,
"cds_start": 1903,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047436125.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1903C>T",
"hgvs_p": "p.Arg635*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292081.1",
"strand": false,
"transcript": "XM_047436125.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 848,
"aa_ref": "R",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4141,
"cdna_start": 2373,
"cds_end": null,
"cds_length": 2547,
"cds_start": 1954,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047436126.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292082.1",
"strand": false,
"transcript": "XM_047436126.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 753,
"aa_ref": "R",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2392,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1321,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017024673.3",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1321C>T",
"hgvs_p": "p.Arg441*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880162.1",
"strand": false,
"transcript": "XM_017024673.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 923,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4350,
"cdna_start": null,
"cds_end": null,
"cds_length": 2772,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938627.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1970-37C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608686.1",
"strand": false,
"transcript": "ENST00000938627.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 916,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4217,
"cdna_start": null,
"cds_end": null,
"cds_length": 2751,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938633.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1949-37C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608692.1",
"strand": false,
"transcript": "ENST00000938633.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 899,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4169,
"cdna_start": null,
"cds_end": null,
"cds_length": 2700,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938632.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1898-37C>T",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608691.1",
"strand": false,
"transcript": "ENST00000938632.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 882,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4116,
"cdna_start": null,
"cds_end": null,
"cds_length": 2649,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964650.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1847-37C>T",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634709.1",
"strand": false,
"transcript": "ENST00000964650.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 877,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4086,
"cdna_start": null,
"cds_end": null,
"cds_length": 2634,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938635.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1949-37C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608694.1",
"strand": false,
"transcript": "ENST00000938635.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 796,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3850,
"cdna_start": null,
"cds_end": null,
"cds_length": 2391,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964652.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1754-11192C>T",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634711.1",
"strand": false,
"transcript": "ENST00000964652.1",
"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": 4530,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NR_148346.2",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "n.2475C>T",
"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_148346.2",
"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": 4428,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NR_148347.2",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "n.2373C>T",
"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_148347.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs386834003",
"effect": "stop_gained",
"frequency_reference_population": 0.000002736229,
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"gnomad_exomes_ac": 4,
"gnomad_exomes_af": 0.00000273623,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Mulibrey nanism syndrome",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.561,
"pos": 59028616,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.05000000074505806,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.05,
"transcript": "NM_001353084.2"
}
]
}