← 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: 4-53383804-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=53383804&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 53383804,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001376744.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_030917.4",
"protein_id": "NP_112179.2",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 594,
"cds_start": 260,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337488.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030917.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000337488.11",
"protein_id": "ENSP00000336752.6",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 594,
"cds_start": 260,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030917.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337488.11"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000282278",
"gene_hgnc_id": null,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000507166.5",
"protein_id": "ENSP00000423325.1",
"transcript_support_level": 2,
"aa_start": 87,
"aa_end": null,
"aa_length": 849,
"cds_start": 260,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507166.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000306932.10",
"protein_id": "ENSP00000302993.6",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 520,
"cds_start": 215,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306932.10"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000507922.5",
"protein_id": "ENSP00000425456.1",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 378,
"cds_start": 215,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507922.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.1552G>A",
"hgvs_p": null,
"transcript": "ENST00000505125.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000505125.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000928373.1",
"protein_id": "ENSP00000598432.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 607,
"cds_start": 260,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928373.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376744.1",
"protein_id": "NP_001363673.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 606,
"cds_start": 260,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376744.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000871721.1",
"protein_id": "ENSP00000541780.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 606,
"cds_start": 260,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871721.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376745.1",
"protein_id": "NP_001363674.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 603,
"cds_start": 260,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376745.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000703454.1",
"protein_id": "ENSP00000515305.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 603,
"cds_start": 260,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703454.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376746.1",
"protein_id": "NP_001363675.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 601,
"cds_start": 260,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376746.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000703484.1",
"protein_id": "ENSP00000515334.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 601,
"cds_start": 260,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703484.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000871723.1",
"protein_id": "ENSP00000541782.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 601,
"cds_start": 260,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871723.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000928376.1",
"protein_id": "ENSP00000598435.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 601,
"cds_start": 260,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928376.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000942748.1",
"protein_id": "ENSP00000612807.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 600,
"cds_start": 260,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942748.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000942744.1",
"protein_id": "ENSP00000612803.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 597,
"cds_start": 260,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942744.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376747.1",
"protein_id": "NP_001363676.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 595,
"cds_start": 260,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376747.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000703485.1",
"protein_id": "ENSP00000515335.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 595,
"cds_start": 260,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703485.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000703489.1",
"protein_id": "ENSP00000515339.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 594,
"cds_start": 260,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703489.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000703474.1",
"protein_id": "ENSP00000515325.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 592,
"cds_start": 215,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703474.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000871725.1",
"protein_id": "ENSP00000541784.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 592,
"cds_start": 260,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871725.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000942754.1",
"protein_id": "ENSP00000612813.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 592,
"cds_start": 260,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942754.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001410723.1",
"protein_id": "NP_001397652.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 591,
"cds_start": 215,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410723.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000703469.1",
"protein_id": "ENSP00000515320.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 591,
"cds_start": 215,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703469.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001134937.2",
"protein_id": "NP_001128409.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 588,
"cds_start": 215,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134937.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000358575.9",
"protein_id": "ENSP00000351383.5",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 588,
"cds_start": 215,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358575.9"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376748.1",
"protein_id": "NP_001363677.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 583,
"cds_start": 260,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376748.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000703486.1",
"protein_id": "ENSP00000515336.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 583,
"cds_start": 260,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703486.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376749.1",
"protein_id": "NP_001363678.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 580,
"cds_start": 260,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376749.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000703453.1",
"protein_id": "ENSP00000515304.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 580,
"cds_start": 260,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703453.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001376750.1",
"protein_id": "NP_001363679.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 579,
"cds_start": 215,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376750.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000703475.1",
"protein_id": "ENSP00000515326.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 579,
"cds_start": 215,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703475.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376751.1",
"protein_id": "NP_001363680.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 578,
"cds_start": 260,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376751.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376752.1",
"protein_id": "NP_001363681.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 578,
"cds_start": 260,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376752.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000703481.1",
"protein_id": "ENSP00000515331.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 578,
"cds_start": 260,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703481.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000703483.1",
"protein_id": "ENSP00000515333.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 578,
"cds_start": 260,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703483.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000703472.1",
"protein_id": "ENSP00000515323.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 577,
"cds_start": 215,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703472.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000928377.1",
"protein_id": "ENSP00000598436.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 577,
"cds_start": 215,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928377.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376753.1",
"protein_id": "NP_001363682.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 574,
"cds_start": 260,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376753.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000942743.1",
"protein_id": "ENSP00000612802.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 574,
"cds_start": 260,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942743.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000871719.1",
"protein_id": "ENSP00000541778.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 572,
"cds_start": 260,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871719.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376754.1",
"protein_id": "NP_001363683.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 571,
"cds_start": 260,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376754.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000703492.1",
"protein_id": "ENSP00000515342.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 571,
"cds_start": 260,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703492.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376755.1",
"protein_id": "NP_001363684.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 570,
"cds_start": 260,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376755.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376756.1",
"protein_id": "NP_001363685.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 570,
"cds_start": 260,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376756.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000703497.1",
"protein_id": "ENSP00000515343.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 570,
"cds_start": 260,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703497.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000942752.1",
"protein_id": "ENSP00000612811.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 570,
"cds_start": 260,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942752.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000871720.1",
"protein_id": "ENSP00000541779.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 569,
"cds_start": 260,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871720.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001376757.1",
"protein_id": "NP_001363686.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 568,
"cds_start": 215,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376757.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001376758.1",
"protein_id": "NP_001363687.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 568,
"cds_start": 215,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376758.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000703470.1",
"protein_id": "ENSP00000515321.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 568,
"cds_start": 215,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703470.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000871731.1",
"protein_id": "ENSP00000541790.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 568,
"cds_start": 260,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871731.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376759.1",
"protein_id": "NP_001363688.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 567,
"cds_start": 260,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376759.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000703476.1",
"protein_id": "ENSP00000515327.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 567,
"cds_start": 260,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703476.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001376760.1",
"protein_id": "NP_001363689.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 565,
"cds_start": 215,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376760.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376761.1",
"protein_id": "NP_001363690.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 565,
"cds_start": 260,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376761.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000703452.1",
"protein_id": "ENSP00000515303.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 565,
"cds_start": 215,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703452.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000703482.1",
"protein_id": "ENSP00000515332.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 565,
"cds_start": 260,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703482.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001376762.1",
"protein_id": "NP_001363691.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 563,
"cds_start": 215,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376762.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000871726.1",
"protein_id": "ENSP00000541785.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 563,
"cds_start": 215,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871726.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001376764.1",
"protein_id": "NP_001363693.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 561,
"cds_start": 215,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376764.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000703460.1",
"protein_id": "ENSP00000515311.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 561,
"cds_start": 215,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703460.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000942745.1",
"protein_id": "ENSP00000612804.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 561,
"cds_start": 260,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942745.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000942751.1",
"protein_id": "ENSP00000612810.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 561,
"cds_start": 260,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942751.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000871728.1",
"protein_id": "ENSP00000541787.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 559,
"cds_start": 215,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871728.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376765.1",
"protein_id": "NP_001363694.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 558,
"cds_start": 260,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376765.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376766.1",
"protein_id": "NP_001363695.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 558,
"cds_start": 260,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376766.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000703456.1",
"protein_id": "ENSP00000515307.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 558,
"cds_start": 260,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703456.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000703490.1",
"protein_id": "ENSP00000515340.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 558,
"cds_start": 260,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703490.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000871722.1",
"protein_id": "ENSP00000541781.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 557,
"cds_start": 260,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871722.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001376767.1",
"protein_id": "NP_001363696.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 556,
"cds_start": 215,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376767.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000703457.1",
"protein_id": "ENSP00000515308.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 556,
"cds_start": 215,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703457.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000871718.1",
"protein_id": "ENSP00000541777.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 556,
"cds_start": 260,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871718.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001376768.1",
"protein_id": "NP_001363697.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 554,
"cds_start": 215,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376768.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000703473.1",
"protein_id": "ENSP00000515324.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 554,
"cds_start": 215,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703473.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000928374.1",
"protein_id": "ENSP00000598433.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 554,
"cds_start": 215,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928374.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000942755.1",
"protein_id": "ENSP00000612814.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 553,
"cds_start": 215,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942755.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001376769.1",
"protein_id": "NP_001363698.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 552,
"cds_start": 215,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376769.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000703466.1",
"protein_id": "ENSP00000515317.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 552,
"cds_start": 215,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703466.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000703459.1",
"protein_id": "ENSP00000515310.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 550,
"cds_start": 215,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703459.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376770.1",
"protein_id": "NP_001363699.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 547,
"cds_start": 260,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376770.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000942747.1",
"protein_id": "ENSP00000612806.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 547,
"cds_start": 260,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942747.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000928372.1",
"protein_id": "ENSP00000598431.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 546,
"cds_start": 215,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928372.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376771.1",
"protein_id": "NP_001363700.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 544,
"cds_start": 260,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376771.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376772.1",
"protein_id": "NP_001363701.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 544,
"cds_start": 260,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376772.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000703455.1",
"protein_id": "ENSP00000515306.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 544,
"cds_start": 260,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703455.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000703500.1",
"protein_id": "ENSP00000515346.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 544,
"cds_start": 260,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703500.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001376773.1",
"protein_id": "NP_001363702.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 543,
"cds_start": 215,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376773.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001410724.1",
"protein_id": "NP_001397653.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 543,
"cds_start": 215,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410724.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000703451.1",
"protein_id": "ENSP00000515302.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 543,
"cds_start": 215,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703451.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000703461.1",
"protein_id": "ENSP00000515312.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 543,
"cds_start": 215,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703461.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000871730.1",
"protein_id": "ENSP00000541789.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 542,
"cds_start": 260,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871730.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000942750.1",
"protein_id": "ENSP00000612809.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 542,
"cds_start": 260,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942750.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000942753.1",
"protein_id": "ENSP00000612812.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 542,
"cds_start": 215,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942753.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000871732.1",
"protein_id": "ENSP00000541791.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 541,
"cds_start": 215,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871732.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376774.1",
"protein_id": "NP_001363703.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 538,
"cds_start": 260,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376774.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000871729.1",
"protein_id": "ENSP00000541788.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 538,
"cds_start": 260,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871729.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000871733.1",
"protein_id": "ENSP00000541792.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 536,
"cds_start": 260,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871733.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376775.1",
"protein_id": "NP_001363704.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 535,
"cds_start": 260,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376775.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000703480.1",
"protein_id": "ENSP00000515330.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 535,
"cds_start": 260,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703480.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000703491.1",
"protein_id": "ENSP00000515341.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 535,
"cds_start": 260,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703491.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001376776.1",
"protein_id": "NP_001363705.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 534,
"cds_start": 215,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376776.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000942749.1",
"protein_id": "ENSP00000612808.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 534,
"cds_start": 260,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942749.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376777.1",
"protein_id": "NP_001363706.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 533,
"cds_start": 260,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376777.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000871724.1",
"protein_id": "ENSP00000541783.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 533,
"cds_start": 260,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871724.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000928371.1",
"protein_id": "ENSP00000598430.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 533,
"cds_start": 260,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928371.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001376778.1",
"protein_id": "NP_001363707.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 532,
"cds_start": 215,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376778.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000504094.2",
"protein_id": "ENSP00000421691.2",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 532,
"cds_start": 215,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504094.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001376779.1",
"protein_id": "NP_001363708.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 529,
"cds_start": 215,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376779.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000703458.1",
"protein_id": "ENSP00000515309.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 529,
"cds_start": 215,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703458.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001376780.1",
"protein_id": "NP_001363709.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 527,
"cds_start": 215,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376780.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000703471.1",
"protein_id": "ENSP00000515322.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 527,
"cds_start": 215,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703471.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000703479.1",
"protein_id": "ENSP00000515329.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 526,
"cds_start": 260,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703479.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001376781.1",
"protein_id": "NP_001363710.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 523,
"cds_start": 215,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376781.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000703468.1",
"protein_id": "ENSP00000515319.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 523,
"cds_start": 215,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703468.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000703467.1",
"protein_id": "ENSP00000515318.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 521,
"cds_start": 215,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703467.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001134938.2",
"protein_id": "NP_001128410.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 520,
"cds_start": 215,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134938.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Ser48Asn",
"transcript": "NM_001376782.1",
"protein_id": "NP_001363711.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 519,
"cds_start": 143,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376782.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000942756.1",
"protein_id": "ENSP00000612815.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 519,
"cds_start": 215,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942756.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001376783.1",
"protein_id": "NP_001363712.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 518,
"cds_start": 215,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376783.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "NM_001376784.1",
"protein_id": "NP_001363713.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 518,
"cds_start": 215,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376784.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000871727.1",
"protein_id": "ENSP00000541786.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 518,
"cds_start": 215,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871727.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000942746.1",
"protein_id": "ENSP00000612805.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 517,
"cds_start": 215,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942746.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376785.1",
"protein_id": "NP_001363714.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 513,
"cds_start": 260,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376785.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000928370.1",
"protein_id": "ENSP00000598429.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 506,
"cds_start": 215,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928370.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "NM_001376786.1",
"protein_id": "NP_001363715.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 499,
"cds_start": 260,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376786.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000703478.1",
"protein_id": "ENSP00000515328.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 499,
"cds_start": 260,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703478.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "ENST00000942757.1",
"protein_id": "ENSP00000612816.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 462,
"cds_start": 215,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942757.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000928378.1",
"protein_id": "ENSP00000598437.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 366,
"cds_start": 260,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928378.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000928375.1",
"protein_id": "ENSP00000598434.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 343,
"cds_start": 260,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928375.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "XM_047416208.1",
"protein_id": "XP_047272164.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 597,
"cds_start": 260,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416208.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "XM_047416210.1",
"protein_id": "XP_047272166.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 582,
"cds_start": 215,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416210.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "XM_047416211.1",
"protein_id": "XP_047272167.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 570,
"cds_start": 260,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416211.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "XM_047416212.1",
"protein_id": "XP_047272168.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 561,
"cds_start": 260,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416212.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "XM_047416213.1",
"protein_id": "XP_047272169.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 559,
"cds_start": 215,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416213.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "XM_047416214.1",
"protein_id": "XP_047272170.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 555,
"cds_start": 215,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416214.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "XM_005265779.5",
"protein_id": "XP_005265836.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 549,
"cds_start": 260,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265779.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "XM_047416215.1",
"protein_id": "XP_047272171.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 547,
"cds_start": 260,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416215.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Ser72Asn",
"transcript": "XM_047416216.1",
"protein_id": "XP_047272172.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 546,
"cds_start": 215,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416216.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "XM_047416218.1",
"protein_id": "XP_047272174.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 535,
"cds_start": 260,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416218.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.486G>A",
"hgvs_p": null,
"transcript": "ENST00000510668.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000510668.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.423G>A",
"hgvs_p": null,
"transcript": "ENST00000511055.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000511055.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.368G>A",
"hgvs_p": null,
"transcript": "ENST00000511376.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000511376.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.256G>A",
"hgvs_p": null,
"transcript": "ENST00000513975.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000513975.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.215G>A",
"hgvs_p": null,
"transcript": "ENST00000703462.1",
"protein_id": "ENSP00000515313.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703462.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.215G>A",
"hgvs_p": null,
"transcript": "ENST00000703463.1",
"protein_id": "ENSP00000515314.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703463.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.215G>A",
"hgvs_p": null,
"transcript": "ENST00000703464.1",
"protein_id": "ENSP00000515315.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703464.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.215G>A",
"hgvs_p": null,
"transcript": "ENST00000703465.1",
"protein_id": "ENSP00000515316.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703465.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.3151G>A",
"hgvs_p": null,
"transcript": "ENST00000703477.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000703477.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.260G>A",
"hgvs_p": null,
"transcript": "ENST00000703487.1",
"protein_id": "ENSP00000515337.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703487.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.260G>A",
"hgvs_p": null,
"transcript": "ENST00000703488.1",
"protein_id": "ENSP00000515338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703488.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.458G>A",
"hgvs_p": null,
"transcript": "ENST00000703493.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000703493.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.458G>A",
"hgvs_p": null,
"transcript": "ENST00000703494.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000703494.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.458G>A",
"hgvs_p": null,
"transcript": "ENST00000703495.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000703495.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.1881G>A",
"hgvs_p": null,
"transcript": "ENST00000703496.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000703496.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.*25G>A",
"hgvs_p": null,
"transcript": "ENST00000703498.1",
"protein_id": "ENSP00000515344.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703498.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.*167G>A",
"hgvs_p": null,
"transcript": "ENST00000703499.1",
"protein_id": "ENSP00000515345.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703499.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.413G>A",
"hgvs_p": null,
"transcript": "NR_164847.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_164847.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.458G>A",
"hgvs_p": null,
"transcript": "NR_164848.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_164848.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.458G>A",
"hgvs_p": null,
"transcript": "NR_164849.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_164849.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.*25G>A",
"hgvs_p": null,
"transcript": "ENST00000703498.1",
"protein_id": "ENSP00000515344.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703498.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.*167G>A",
"hgvs_p": null,
"transcript": "ENST00000703499.1",
"protein_id": "ENSP00000515345.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703499.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.57+1469G>A",
"hgvs_p": null,
"transcript": "ENST00000514543.5",
"protein_id": "ENSP00000421241.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000514543.5"
}
],
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"dbsnp": null,
"frequency_reference_population": 6.852028e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85203e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22154608368873596,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.353,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8655,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.811,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001376744.1",
"gene_symbol": "FIP1L1",
"hgnc_id": 19124,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000507166.5",
"gene_symbol": "ENSG00000282278",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}