---
-
allele_string: AGTAGCAACAGTAGCAACCGTGACTGAACCAAGAAGTCTACTTTAATTTCCTGGAACAAAAGAGACTGGTGTGGGTGTTCATTTGCTTTCCTGACTGCATTGGGGCCCACAAGTGAGAAGGAGTGCCTCAGTTCCTCATCAGAGTTTTTGTTCTTGTCTTACTTTGTGTTCCTACCCTGTCCCATCCTTGGCCCTCAGTTCCAGCTTTTCTTCTCTTACCCAGAACTATAGACTTCATAAGGAGACTGGGTGGACTCCTGGAGCATCACAGTCAGAGGCTTATGCTTTGCTCTGCCTGTGGCAGGCCTTTGGTGTGTGAGGGCACAAGGCCACTTCAGACACAGTGTTGGGAAGAAGCCAGGGGAGAGGGGGGATCACAGCAAGGACACCTGAGTGATGACGCAGTGCAAAGGATTAATGGGAGAAAGAAGGGAATGCTGATTGTCTTCTCCCCTTTGGCTGATCTGGCTCTGCCCCTTACTTCCCCCAGCCCTGTATATGGATTTATCTTCCTGTTCAAATGGATCGAAGAGCGCCGGTCCCGGCGAAAGGTCTCTACCTTGGTGGATGATACGTCCGTGATTGATGATGATATTGTGAATAACATGTTCTTTGCCCACCAGGTCTGCTGGACTCTGTGCTTTGTTTGGAGGGTGGGATGCTGCCATGTTTTTGCTTGGGAAGTGGAAATGGAGGAAGACAGGAGGAGGAGATAGGCAGATTCTAGGGGTGGTAGCTACAGAAATCCTCTGGCAGAACGAACTGAACTCTTAATTCATTAAAGGGAACAGCTTTAGAGTAGGAGGGTGTCTGAGTCCACTCTCTGTGTCCTCAGATATCCAGTGGGTATTTGGTAGGTGCTTGTTAAATGAATAAACATTAGGCAAAGATGAAAGGAGCTGAGAAGGGGAGTTGTCCAGATATGACTGACCTGCTCTGGATCCCCATTCTTGATGTATATGGGCTTGGGGCTTGCAGTGAGGGGTGCTGTGTATGGGTGACTATTCTTGGTTTCACAGCTGATACCCAACTCTTGTGCAACTCATGCCTTGCTGAGCGTGCTCCTGAACTGCAGCAGCGTGGACCTGGGACCCACCCTGAGTCGCATGAAGGACTTCACCAAGGGTTTCAGCCCTGAGGTAGGCTGCAGTGCCTTCATCCTGGCTCACAGCCAACTGGGCAGATCTGACCCTGAGGGCCACTGGGAATGCTACCACATGATATTGGGTACTATTAGGCTGTTTCTTTTTCAAATGATTGTTTATGTTACATTTGACTCTTAAATAAATTGTGTAAGGCCATTGTTTTTAGATGCAGTTGCGGGGAAAGGACACAGGCCTAGGGAGGGAGGAGAGTTTCCTTAAGTCAGACCATGTCAGAACCTTCTCTGTCAGGACTTTTCCTCTCAGGCCATGTTGCTTCCTAGTGTCCACTAATTACCATGCAAGGCCAGCACAGTCCATCTCTTTGGGGCTCCAGAGCTCTTTTCTGCCCCCACCAGCCTTTTAAGAAAGTTCGTCTGTGTTCCTTCCGATTCCTGGAATGCCTCCAGGCTGCTCTCTGAAGCTTTGCCTTCCACCCATAGTCCTACCTGAGGAGAAATTATTCTGATACGGCCTTATTTTCTTCCCCGTAGAGCAAAGGATATGCGATTGGCAATGCCCCGGAGTTGGCCAAGGCCCATAATAGCCATGCCAGGTGTGTGGGAGCTGTGGGAGCTGATGTGGGGTGGGAGTAGGGGGAGTATCATTTTTTGGGCCCTGACTCTGTTTTTCCCCAGGCCCGAGCCACGCCACCTCCCTGAGAAGCAGAATGGCCTTAGTGCAGTGCGGACCATGGAGGCGTTCCACTTTGTCAGCTATGTGCCTATCACAGGCCGGCTCTTTGAGCTGGATGGGCTGAAGGTCTACCCCATTGACCATGGTAGGCACCATGAGCTGGAGGCCTGTTGGGTGTCTCTGCCTACCTCCTAGGGAGCTGGGGCTCAGGGCCCTCTGGTATGTGGTACCCAGTGGCAGGGGTTGTCGGTACCGACACCCGGCTCTGGCTGGGGTTTCACCCTACACCATATTGCCCGACCAGCTCCTGATTCCCTGGCTCAACTGCTCTTCTCTGTCTTCCTTCCCACTCCTGGCCTGCCCAAACTCAGGGTTTCCTTCTCGCTGATTCCTTGTCTTGGTCTCCACTAGGGCCCTGGGGGGAGGACGAGGAGTGGACAGACAAGGCCCGGCGGGTCATCATGGAGCGTATCGGCCTCGCCACTGCAGGGTAAGGGCCCTGTGCCTGCCCTGTTCTACTCTCTGGAGCTGTACCTACTTTGGGAGGGACAGAGAGTATCCAGGTGATTTGTAAATTGCAAGGCCATATGGTGAATCTGGCAAGATCAGGCTTAGATCATGGGTTCTCAACTTGTTGTCTTATTTCCTGCCTGGGCTGCCTGTGGCCTGCTCCTGGGTGGGCTGGGGGAGGGGCAGGCCTCAGTGGAGCCTTAGGCAGCCCAGGTCTGCTGGTTCACTTCCAGATAGGCCCCTCATACAGCTTGTTGGAAGGTACCAGCTCAGGTGCCTGGCATGTATGGCTAGTCGCTGCCTGCCTGTTGGGGTGGGGCCTATACCTACAGCTGCAGGTGTGACTGCAGGGAGCCCTGCCAGGATATCTGCCTCAACCTGATGGCGGGGCCGGGGCGGGAGCTGCTCTCACGGCTGCGGCTGTGACTGCAGGGAGCCCTACCACGACATCCGCTTCAACCTGATGGCAGTGGTGCCCGACCGCAGGATCAAGTATGAGGCCAGGCTGCATGTGCTGAAGGTGAACCGTCAGACAGTACTAGAGGCTCTGCAGCAGGTAGGTGCCCTTTCTTCCTGGCCTCTGCCCAGCCCAACCCTCCCTGCATTCCTCCTCCCTTCCCCCACAGCATTTGTCTCTGATTCGTGAACATACTCTCTTGTAGATCTGGGCTTCAGCTAACCACATCTTTTCTTTGCCCCCATTGTGGGAAAGGTGGGACTTGGAGTGGGGAGGGAGAATAGCTTCTAAAAGGAAGTTTGGGTTTGGGTGTTTTATTTCCCTGTGAGTGAATGGGTAGAGCCAAGGCCATTATTCCTTTAGGTCCTCAGCCCTTAGCTATTTAAGGTAGAAGCCCGGGTCTACCCTTTCTCCTCTGAGCCCTGGATTCTGTTGTTAGCTGATAAGAGTAACACAGCCAGAGCTGATTCAGACCCACAAGTCTCAAGAGTCACAGCTGCCTGAGGAGTCCAAGTCAGCCAGCAACAAGTCCCCGCTGGTGCTGGAAGCAAACAGGGCCCCTGCAGCCTCTGAGGGCAACCACACAGGTACTGGGGGGTTTGGGACCTCTTGTGGACCTCAGAGCCACCCGCTAATGTCTGACATGGGAGGCCTAAACAGGGAAAGTCTTTTTCTGGGGATGTCCTTGGGCAGTGTTCTTCCCCCGTCAGAAGGTAGAGGGAGAGCAGTCCTTCCCTAAAGAAAGGCACCTGTAAAGGGCCGCTGTTACCACAGGCCCCTGGGCCCTTCTCTGTAATGTACACTCCCTTTCTTGTTTTCTCTAGAGGCGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTCCTGCTTCTTTTTTCCCATCTCATTCTTTGCCCTGTCTCATTGCGGGATCATGACTTAGAGCTTGCTGACTCCCATTGCACCAGCTGGCTGGGCTGTTCTTCTCTGGGAAGTGCTGGTTCACAGGGCCGGGGAGACTGTGAGCTTTTCTTGGAGATCCTACTGGAGGTCCTGCCTGTGTTCTTGCCCTGTCTCAGATGGTGCAGAGGAGGCGGCTGGTTCATGCGCACAAGCCCCATCCCACAGCCCTCCCAACAAACCCAAGCTAGTGGTGAAGCCTCCAGGCAGCAGCCTCAATGGGGTTCACCCCAACCCCACTCCCATTGTCCAGCGGCTGCCGGCCTTTCTAGACAATCACAATTATGCCAAGTCCCCCATGCAGGTAAGCTGGGAGCACCCTTGCAGGATTCTCTACTTGATTCTCTTGAGAGGCTGCAACAGGCAATTTTCCCATGTGGTTCCTTGGTGTTCATCCTTGGCATGGCTGGGTCAAGCTGCCTGGGCCTGGGTTGCTAGGTTCCTCTGCCTGATATGAAAAGGCCCCCACAACAGCAGGAGCTTAGGGAGGCAGGGAGAGCTCCTTTGAATTTAATCTAGTTACGTGGCTGTGGGATTAAATGTTTAGGTCACGCTCCTTGGTACAACTTCATGGGTTGGGTTTTACTGGCAAAATAAAGGCATGTGTTTCAGGGCACTCTGTTTCTCTTAAAACCCCTCCGTGGGGTTCTATCCAGTGTAAGTGGGTGGCAGCCTCCCCACAAGCCAAGGACAGGCCATGGAACAGCTGGAGGGGTTCCGCTGACTCAGTCTGGAAAACCATGTTGGCTTTCTCTCTGGCTGTGAGTGTCTAGGCTCAGCCTGGGCCGAGCAGCACTTGTTTGTAACTGCCCTGGTCTTTGTCCCAGGAGGAAGAAGACCTGGCGGCAGGTGTGGGCCGCAGCCGAGTTCCAGTCCGCCCACCCCAGCAGTACTCAGATGATGAGGATGACTATGAGGATGACGAGGAGGATGACGTGCAGAACACCAACTCTGCCCTTAGGTCAGCCCAGCTTTCTAAGGCTACCAGGTTCTAGGTGCTTCGGATCCCATCCTGAATATCTCAGTCTGTGTCTGAGAATGCCCTGCAGCAGATAATGTTGAGCACCTGCGGAGTTTGGGGCCCTGGGGGAGGCTGGCATGATGGGGCTGACCCCAGGTCCCCAGGAAGTTTTTGGTGGGCTGGGGGGTAAGGCTGAGCACGTAAGCTTATATCATGTCCTATTGGAAGTGGCCTTTTAGCCAGGCCTTGAAGGATTGGTTGGGGCAGGGATGGAGGAGATGTGGGTGGTGGGGAGGCAGCTTTGCTGGAACACAGGGCATTGGCAAAAGGCCAGGAGTGGGATGGCTGGAATAGAGGAAGTGTCTTTTGAGGACACTTGGCTGCAGCTGTCAGAACTTGATGCCAGGCTTAGCATGGCTAGTTCAAGTTGCTTGGACCAAGTATAAGGAGTTTTAGGGTCAGCCCCTGGAGGTCGGGATGTATTTAAGCCATTCTGGGTACTGCTGGGTATGGTCACCTGGCCCGTTCCCTTGCTTCACATCTTCTCGGGCCCCACAGGTATAAGGGGAAGGGAACAGGGAAGCCAGGGGCATTGAGCGGTTCTGCTGATGGGCAACTGTCAGTGCTGCAGCCCAAC/-
assembly_name: GRCh37
end: 52443112
id: ENST00000460680.1:c.783_661+1del124
input: ENST00000460680.1:c.783_661+1del124
most_severe_consequence: transcript_ablation
seq_region_name: 3
start: 52437832
strand: -1
transcript_consequences:
-
biotype: protein_coding
cdna_end: 1311
cds_end: 1275
consequence_terms:
- splice_acceptor_variant
- splice_donor_variant
- splice_donor_5th_base_variant
- coding_sequence_variant
- intron_variant
gene_id: ENSG00000163930
gene_symbol: BAP1
gene_symbol_source: HGNC
hgnc_id: 950
impact: HIGH
protein_end: 425
strand: -1
transcript_id: ENST00000296288
variant_allele: "-"
-
biotype: protein_coding
consequence_terms:
- upstream_gene_variant
distance: 1561
gene_id: ENSG00000010318
gene_symbol: PHF7
gene_symbol_source: HGNC
hgnc_id: 18458
impact: MODIFIER
strand: 1
transcript_id: ENST00000327906
variant_allele: "-"
-
biotype: protein_coding
consequence_terms:
- upstream_gene_variant
distance: 2101
gene_id: ENSG00000010318
gene_symbol: PHF7
gene_symbol_source: HGNC
hgnc_id: 18458
impact: MODIFIER
strand: 1
transcript_id: ENST00000347025
variant_allele: "-"
-
biotype: protein_coding
consequence_terms:
- downstream_gene_variant
distance: 3325
gene_id: ENSG00000114841
gene_symbol: DNAH1
gene_symbol_source: HGNC
hgnc_id: 2940
impact: MODIFIER
strand: 1
transcript_id: ENST00000420323
variant_allele: "-"
-
biotype: protein_coding
cdna_end: 1801
cds_end: 1329
consequence_terms:
- splice_acceptor_variant
- splice_donor_variant
- splice_donor_5th_base_variant
- coding_sequence_variant
- intron_variant
gene_id: ENSG00000163930
gene_symbol: BAP1
gene_symbol_source: HGNC
hgnc_id: 950
impact: HIGH
protein_end: 443
strand: -1
transcript_id: ENST00000460680
variant_allele: "-"
-
biotype: retained_intron
consequence_terms:
- upstream_gene_variant
distance: 265
gene_id: ENSG00000163930
gene_symbol: BAP1
gene_symbol_source: HGNC
hgnc_id: 950
impact: MODIFIER
strand: -1
transcript_id: ENST00000466093
variant_allele: "-"
-
biotype: protein_coding
cdna_end: 104
cds_end: 105
consequence_terms:
- splice_acceptor_variant
- splice_donor_variant
- splice_donor_5th_base_variant
- coding_sequence_variant
- 5_prime_UTR_variant
- intron_variant
flags:
- cds_start_NF
gene_id: ENSG00000163930
gene_symbol: BAP1
gene_symbol_source: HGNC
hgnc_id: 950
impact: HIGH
protein_end: 35
strand: -1
transcript_id: ENST00000469613
variant_allele: "-"
-
biotype: protein_coding
consequence_terms:
- splice_acceptor_variant
- splice_donor_variant
- splice_donor_5th_base_variant
- coding_sequence_variant
- 5_prime_UTR_variant
- 3_prime_UTR_variant
- intron_variant
flags:
- cds_end_NF
gene_id: ENSG00000163930
gene_symbol: BAP1
gene_symbol_source: HGNC
hgnc_id: 950
impact: HIGH
strand: -1
transcript_id: ENST00000470173
variant_allele: "-"
-
biotype: retained_intron
consequence_terms:
- transcript_ablation
gene_id: ENSG00000163930
gene_symbol: BAP1
gene_symbol_source: HGNC
hgnc_id: 950
impact: HIGH
strand: -1
transcript_id: ENST00000471532
variant_allele: "-"
-
biotype: processed_transcript
consequence_terms:
- upstream_gene_variant
distance: 3758
gene_id: ENSG00000010318
gene_symbol: PHF7
gene_symbol_source: HGNC
hgnc_id: 18458
impact: MODIFIER
strand: 1
transcript_id: ENST00000472337
variant_allele: "-"
-
biotype: retained_intron
consequence_terms:
- upstream_gene_variant
distance: 1794
gene_id: ENSG00000010318
gene_symbol: PHF7
gene_symbol_source: HGNC
hgnc_id: 18458
impact: MODIFIER
strand: 1
transcript_id: ENST00000473145
variant_allele: "-"
-
biotype: protein_coding
consequence_terms:
- upstream_gene_variant
distance: 169
flags:
- cds_start_NF
gene_id: ENSG00000163930
gene_symbol: BAP1
gene_symbol_source: HGNC
hgnc_id: 950
impact: MODIFIER
strand: -1
transcript_id: ENST00000478368
variant_allele: "-"
-
biotype: processed_transcript
consequence_terms:
- upstream_gene_variant
distance: 1940
gene_id: ENSG00000010318
gene_symbol: PHF7
gene_symbol_source: HGNC
hgnc_id: 18458
impact: MODIFIER
strand: 1
transcript_id: ENST00000482327
variant_allele: "-"
-
biotype: retained_intron
consequence_terms:
- splice_acceptor_variant
- splice_donor_variant
- splice_donor_5th_base_variant
- non_coding_transcript_exon_variant
- intron_variant
gene_id: ENSG00000163930
gene_symbol: BAP1
gene_symbol_source: HGNC
hgnc_id: 950
impact: HIGH
strand: -1
transcript_id: ENST00000483984
variant_allele: "-"
-
biotype: retained_intron
consequence_terms:
- downstream_gene_variant
distance: 3325
gene_id: ENSG00000114841
gene_symbol: DNAH1
gene_symbol_source: HGNC
hgnc_id: 2940
impact: MODIFIER
strand: 1
transcript_id: ENST00000486752
variant_allele: "-"
-
biotype: retained_intron
consequence_terms:
- downstream_gene_variant
distance: 3329
gene_id: ENSG00000114841
gene_symbol: DNAH1
gene_symbol_source: HGNC
hgnc_id: 2940
impact: MODIFIER
strand: 1
transcript_id: ENST00000488988
variant_allele: "-"
-
biotype: nonsense_mediated_decay
consequence_terms:
- downstream_gene_variant
distance: 3329
flags:
- cds_start_NF
gene_id: ENSG00000114841
gene_symbol: DNAH1
gene_symbol_source: HGNC
hgnc_id: 2940
impact: MODIFIER
strand: 1
transcript_id: ENST00000490713
variant_allele: "-"
-
biotype: retained_intron
cdna_end: 757
consequence_terms:
- splice_acceptor_variant
- splice_donor_variant
- splice_donor_5th_base_variant
- non_coding_transcript_exon_variant
- intron_variant
gene_id: ENSG00000163930
gene_symbol: BAP1
gene_symbol_source: HGNC
hgnc_id: 950
impact: HIGH
strand: -1
transcript_id: ENST00000490804
variant_allele: "-"
-
biotype: nonsense_mediated_decay
consequence_terms:
- splice_acceptor_variant
- splice_donor_variant
- splice_donor_5th_base_variant
- coding_sequence_variant
- 3_prime_UTR_variant
- intron_variant
- NMD_transcript_variant
gene_id: ENSG00000163930
gene_symbol: BAP1
gene_symbol_source: HGNC
hgnc_id: 950
impact: HIGH
strand: -1
transcript_id: ENST00000490917
variant_allele: "-"