2-238933947-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238933947
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238933947
    reference: chr 2
allele count: 1
allele frequency: 8.36470096194061e-6
allele num: 119550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.283-36G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.283-36G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.283-36G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.217-36G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5250G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.143-36G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-5250G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.46G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.211-36G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.187-36G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*238-36G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*398-36G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.187-36G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.215-36G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8672G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*220-36G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.283-36G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.253-36G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*199-36G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.316-36G>A
  variant of: http://identifiers.org/hgnc/12480
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

2-238933949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238933949
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238933949
    reference: chr 2
allele count: 7
allele frequency: 5.858721124874456e-5
allele num: 119480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.316-34C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.211-34C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.283-34C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.283-34C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*238-34C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.187-34C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*199-34C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.48C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.143-34C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8674C>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*398-34C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*220-34C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5248C>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.217-34C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.253-34C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.215-34C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.283-34C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.283-34C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.187-34C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.283-34C>T
  variant of: http://identifiers.org/hgnc/12480
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

2-238933950-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238933950
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238933950
    reference: chr 2
allele count: 7
allele frequency: 5.856172405715624e-5
allele num: 119532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5247G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.49G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*238-33G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-5247G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.217-33G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*398-33G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*220-33G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*199-33G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.283-33G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.215-33G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.187-33G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.283-33G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.211-33G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.316-33G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.283-33G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.283-33G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.143-33G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8675G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.187-33G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.253-33G>A
  variant of: http://identifiers.org/hgnc/12480
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-238933952-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238933952
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238933952
    reference: chr 2
allele count: 5
allele frequency: 4.180951584580651e-5
allele num: 119590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*220-31C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5245C>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.283-31C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*398-31C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.283-31C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*199-31C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.253-31C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.51C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.283-31C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.316-31C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.143-31C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.187-31C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.211-31C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-5245C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.283-31C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.217-31C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.215-31C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.187-31C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8677C>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*238-31C>T
  variant of: http://identifiers.org/hgnc/12480
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

2-238933953-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238933953
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238933953
    reference: chr 2
allele count: 6
allele frequency: 5.017057997190448e-5
allele num: 119592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.283-30G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.215-30G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.316-30G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-5244G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.52G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.187-30G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.283-30G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8678G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.217-30G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*220-30G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.211-30G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.187-30G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.143-30G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*199-30G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.283-30G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5244G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*238-30G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*398-30G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.253-30G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.283-30G>A
  variant of: http://identifiers.org/hgnc/12480
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

2-238933956-ATCTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238933956
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238933952
    reference: chr 2
allele count: 6
allele frequency: 5.0134527649192e-5
allele num: 119678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.253-22_253-19delTCTC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*398-22_*398-19delTCTC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.217-22_217-19delTCTC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.283-22_283-19delTCTC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*199-22_*199-19delTCTC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.60_63delTCTC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*220-22_*220-19delTCTC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.316-22_316-19delTCTC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*238-22_*238-19delTCTC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.143-22_143-19delTCTC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.187-22_187-19delTCTC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.283-22_283-19delTCTC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.283-22_283-19delTCTC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.215-22_215-19delTCTC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-5236_283-5233delTCTC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.283-22_283-19delTCTC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.211-22_211-19delTCTC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8686_282+8689delTCTC
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5236_215-5233delTCTC
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.187-22_187-19delTCTC
  variant of: http://identifiers.org/hgnc/12480
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: ATCTC
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

2-238933962-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238933962
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238933962
    reference: chr 2
allele count: 4
allele frequency: 3.339957582538702e-5
allele num: 119762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*238-21C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*398-21C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*220-21C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.316-21C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8687C>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.187-21C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5235C>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.211-21C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.283-21C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.215-21C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.253-21C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.143-21C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.61C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.217-21C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.283-21C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*199-21C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.283-21C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.283-21C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.187-21C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-5235C>G
  variant of: http://identifiers.org/hgnc/12480
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

2-238933977-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238933977
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238933977
    reference: chr 2
allele count: 1
allele frequency: 8.337224037884346e-6
allele num: 119944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.187-6T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.143-6T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-5220T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*220-6T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.253-6T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.283-6T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.217-6T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*398-6T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.316-6T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.215-6T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.283-6T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.187-6T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*199-6T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.211-6T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.283-6T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*238-6T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.283-6T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8702T>C
  variant of: http://identifiers.org/hgnc/48339
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.283-6T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

2-238933997-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238933997
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238933997
    reference: chr 2
allele count: 2
allele frequency: 1.666527789350887e-5
allele num: 120010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.297A>T
  hgvsp: ENSP00000406113.1:p.Lys99Asn
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.297A>T
  hgvsp: ENSP00000272930.4:p.Lys99Asn
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.267A>T
  hgvsp: ENSP00000414619.2:p.Lys89Asn
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*213A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.225A>T
  hgvsp: ENSP00000386680.1:p.Lys75Asn
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5200A>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.297A>T
  hgvsp: ENSP00000393515.1:p.Lys99Asn
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.229A>T
  hgvsp: ENSP00000409749.2:p.Met77Leu
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.231A>T
  hgvsp: ENSP00000387060.1:p.Lys77Asn
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-5200A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.157A>T
  hgvsp: ENSP00000396296.1:p.Met53Leu
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.201A>T
  hgvsp: ENSP00000390813.1:p.Lys67Asn
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*412A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.330A>T
  hgvsp: ENSP00000396003.1:p.Lys110Asn
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.96A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*234A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*252A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.201A>T
  hgvsp: ENSP00000399183.1:p.Lys67Asn
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8722A>T
  variant of: http://identifiers.org/hgnc/48339
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys99Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-238934006-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238934006
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238934006
    reference: chr 2
allele count: 6
allele frequency: 5.010522096402445e-5
allele num: 119748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5191C>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.339C>G
  hgvsp: ENST00000448502.1:c.339C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.234C>G
  hgvsp: ENST00000409953.1:c.234C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*243C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.240C>G
  hgvsp: ENST00000409332.1:c.240C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.306C>G
  hgvsp: ENST00000433241.1:c.306C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.306C>G
  hgvsp: ENST00000272930.4:c.306C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.27C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*421C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.105C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.306C>G
  hgvsp: ENST00000439780.1:c.306C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.166C>G
  hgvsp: ENSP00000396296.1:p.Gln56Glu
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.210C>G
  hgvsp: ENST00000416292.1:c.210C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.238C>G
  hgvsp: ENSP00000409749.2:p.Gln80Glu
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*261C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*222C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.210C>G
  hgvsp: ENST00000414443.1:c.210C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.306C>G
  hgvsp: ENST00000434655.1:c.306C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8731C>G
  variant of: http://identifiers.org/hgnc/48339
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln80Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-238934018-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238934018
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238934018
    reference: chr 2
allele count: 1
allele frequency: 8.399267583866688e-6
allele num: 119058
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.318C>T
  hgvsp: ENST00000272930.4:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.39C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*234C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.222C>T
  hgvsp: ENST00000416292.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.252C>T
  hgvsp: ENST00000409332.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*255C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.250C>T
  hgvsp: ENSP00000409749.2:p.Pro84Ser
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.246C>T
  hgvsp: ENST00000409953.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8743C>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*433C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.318C>T
  hgvsp: ENST00000434655.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.178C>T
  hgvsp: ENSP00000396296.1:p.Pro60Ser
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.318C>T
  hgvsp: ENST00000409633.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.222C>T
  hgvsp: ENST00000414443.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.318C>T
  hgvsp: ENST00000433241.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-5179C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.351C>T
  hgvsp: ENST00000448502.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*273C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.288C>T
  hgvsp: ENST00000434137.2:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro84Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

2-238934021-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238934021
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238934021
    reference: chr 2
allele count: 4
allele frequency: 3.370407819346141e-5
allele num: 118680
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.225C>G
  hgvsp: ENST00000414443.1:c.225C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.321C>G
  hgvsp: ENST00000439780.1:c.321C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.291C>G
  hgvsp: ENST00000434137.2:c.291C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.255C>G
  hgvsp: ENST00000409332.1:c.255C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8746C>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.321C>G
  hgvsp: ENST00000433241.1:c.321C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.181C>G
  hgvsp: ENSP00000396296.1:p.Gln61Glu
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.249C>G
  hgvsp: ENST00000409953.1:c.249C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.321C>G
  hgvsp: ENST00000434655.1:c.321C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.253C>G
  hgvsp: ENSP00000409749.2:p.Gln85Glu
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*276C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.321C>G
  hgvsp: ENST00000409633.1:c.321C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*436C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*258C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.120C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.354C>G
  hgvsp: ENST00000448502.1:c.354C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5176C>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-5176C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.42C>G
  variant of: http://identifiers.org/hgnc/12480
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln85Glu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/2-238934045-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238934045
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238934045
    reference: chr 2
allele count: 1
allele frequency: 8.792290919321939e-6
allele num: 113736
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.273A>C
  hgvsp: ENST00000409953.1:c.273A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.277A>C
  hgvsp: ENSP00000409749.2:p.Met93Leu
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5152A>C
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.279A>C
  hgvsp: ENST00000409332.1:c.279A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.315A>C
  hgvsp: ENST00000434137.2:c.315A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*300A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.249A>C
  hgvsp: ENST00000416292.1:c.249A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.378A>C
  hgvsp: ENST00000448502.1:c.378A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.345A>C
  hgvsp: ENST00000272930.4:c.345A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.205A>C
  hgvsp: ENSP00000396296.1:p.Met69Leu
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-5152A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.249A>C
  hgvsp: ENST00000414443.1:c.249A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.66A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*460A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.345A>C
  hgvsp: ENST00000409633.1:c.345A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8770A>C
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*261A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.345A>C
  hgvsp: ENST00000433241.1:c.345A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.345A>C
  hgvsp: ENST00000434655.1:c.345A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met93Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

2-238934068-TTTTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238934068
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238934064
    reference: chr 2
allele count: 69
allele frequency: 6.732101391300954e-4
allele num: 102494
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.353+22_353+25delTCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*269+22_*269+25delTCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.213+22_213+25delTCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*468+22_*468+25delTCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.353+22_353+25delTCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.353+22_353+25delTCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5122_215-5119delTCTT
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*308+22_*308+25delTCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8800_282+8803delTCTT
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.281+22_281+25delTCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*290+22_*290+25delTCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.386+22_386+25delTCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.323+22_323+25delTCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.257+22_257+25delTCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.353+22_353+25delTCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.287+22_287+25delTCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.74+22_74+25delTCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.152+22_152+25delTCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.257+22_257+25delTCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.285+22_285+25delTCTT
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: TTTTC
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

2-238934069-TTTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238934069
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238934066
    reference: chr 2
allele count: 2
allele frequency: 1.952057468571875e-5
allele num: 102456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.353+19_353+21delCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*269+19_*269+21delCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.287+19_287+21delCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+19_353+21delCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.386+19_386+21delCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*290+19_*290+21delCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.285+19_285+21delCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.152+19_152+21delCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5125_215-5123delCTT
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.213+19_213+21delCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.323+19_323+21delCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8797_282+8799delCTT
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.257+19_257+21delCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*468+19_*468+21delCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-5125_283-5123delCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.353+19_353+21delCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.257+19_257+21delCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.74+19_74+21delCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.353+19_353+21delCTT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*308+19_*308+21delCTT
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: TTTC
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

2-238934073-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238934073
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238934073
    reference: chr 2
allele count: 1
allele frequency: 9.903735689101928e-6
allele num: 100972
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.257+20T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.213+20T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.74+20T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.285+20T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.353+20T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*290+20T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*468+20T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.353+20T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.152+20T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8798T>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.323+20T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+20T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.287+20T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*269+20T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*308+20T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.386+20T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.257+20T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.353+20T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.281+20T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.353+20T>G
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

2-238934077-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238934077
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238934077
    reference: chr 2
allele count: 2
allele frequency: 2.021590587474225e-5
allele num: 98932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.386+24T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.257+24T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.287+24T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+24T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.74+24T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5120T>C
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*269+24T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.285+24T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*468+24T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*290+24T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.353+24T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-5120T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.353+24T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.281+24T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*308+24T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.323+24T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.213+24T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.152+24T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.353+24T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.353+24T>C
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-238934081-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238934081
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238934081
    reference: chr 2
allele count: 1
allele frequency: 1.032055648440564e-5
allele num: 96894
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+28A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*290+28A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.152+28A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.386+28A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.257+28A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.74+28A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-5116A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.323+28A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*308+28A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.287+28A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5116A>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.353+28A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.285+28A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.353+28A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.213+28A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.353+28A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*468+28A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.257+28A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*269+28A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.281+28A>G
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

2-238934086-CGTGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238934086
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238934082
    reference: chr 2
allele count: 16
allele frequency: 1.698153258331564e-4
allele num: 94220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*468+37_*468+40delAGTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*290+37_*290+40delAGTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5107_215-5104delAGTG
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.386+37_386+40delAGTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.285+37_285+40delAGTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.74+37_74+40delAGTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*308+37_*308+40delAGTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.287+37_287+40delAGTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.353+37_353+40delAGTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-5107_283-5104delAGTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.257+37_257+40delAGTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.353+37_353+40delAGTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.152+37_152+40delAGTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.213+37_213+40delAGTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.323+37_323+40delAGTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8815_282+8818delAGTG
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.281+37_281+40delAGTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.257+37_257+40delAGTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.353+37_353+40delAGTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+37_353+40delAGTG
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: CGTGA
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

2-238934087-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238934087
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238934087
    reference: chr 2
allele count: 10
allele frequency: 1.066098081023454e-4
allele num: 93800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.287+34G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.285+34G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.74+34G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.152+34G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.353+34G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*269+34G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*290+34G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.281+34G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.323+34G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.213+34G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*468+34G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+34G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.353+34G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.353+34G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.386+34G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.257+34G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5110G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8812G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*308+34G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.257+34G>A
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

2-238934095-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238934095
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238934093
    reference: chr 2
allele count: 1
allele frequency: 1.139938899274999e-5
allele num: 87724
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.323+43_323+44delAT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.285+43_285+44delAT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5101_215-5100delAT
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.287+43_287+44delAT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*290+43_*290+44delAT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.257+43_257+44delAT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.281+43_281+44delAT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-5101_283-5100delAT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.353+43_353+44delAT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*308+43_*308+44delAT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.353+43_353+44delAT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*468+43_*468+44delAT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8821_282+8822delAT
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.74+43_74+44delAT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.152+43_152+44delAT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.257+43_257+44delAT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.213+43_213+44delAT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*269+43_*269+44delAT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+43_353+44delAT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.353+43_353+44delAT
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: CAT
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-238934103-A-AAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238934103
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238934105
    reference: chr 2
allele count: 6
allele frequency: 7.497188554292141e-5
allele num: 80030
alternate allele: AAC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.353+50_353+51insAC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5094_215-5093insAC
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.213+50_213+51insAC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*308+50_*308+51insAC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.353+50_353+51insAC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.152+50_152+51insAC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.281+50_281+51insAC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.257+50_257+51insAC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.287+50_287+51insAC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*290+50_*290+51insAC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.353+50_353+51insAC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8828_282+8829insAC
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*269+50_*269+51insAC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.257+50_257+51insAC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-5094_283-5093insAC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.386+50_386+51insAC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+50_353+51insAC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*468+50_*468+51insAC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.285+50_285+51insAC
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.74+50_74+51insAC
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

2-238934104-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238934104
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238934104
    reference: chr 2
allele count: 1
allele frequency: 1.26864914239318e-5
allele num: 78824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.213+51G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.257+51G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.74+51G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.281+51G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+51G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.323+51G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*468+51G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*290+51G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.152+51G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.353+51G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.353+51G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.287+51G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*308+51G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.353+51G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5093G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.285+51G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-5093G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.386+51G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.353+51G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*269+51G>A
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

2-238934105-C-CTTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238934105
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238934108
    reference: chr 2
allele count: 6
allele frequency: 7.743734028548566e-5
allele num: 77482
alternate allele: CTTG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.285+52_285+53insTTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*290+52_*290+53insTTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*308+52_*308+53insTTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.353+52_353+53insTTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.257+52_257+53insTTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.323+52_323+53insTTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-5092_283-5091insTTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*269+52_*269+53insTTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8830_282+8831insTTG
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*468+52_*468+53insTTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5092_215-5091insTTG
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+52_353+53insTTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.152+52_152+53insTTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.353+52_353+53insTTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.74+52_74+53insTTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.386+52_386+53insTTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.353+52_353+53insTTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.281+52_281+53insTTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.213+52_213+53insTTG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.287+52_287+53insTTG
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

2-238934105-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238934105
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238934105
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 77482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.323+52C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.285+52C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.353+52C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.152+52C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.213+52C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*269+52C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-5092C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-5092C>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.257+52C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.257+52C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.287+52C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*290+52C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*308+52C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.386+52C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.353+52C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.74+52C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.282+8830C>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.353+52C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.353+52C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.281+52C>T
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

2-238939152-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238939152
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238939152
    reference: chr 2
allele count: 1
allele frequency: 9.752482006670697e-6
allele num: 102538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.214-45C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.354-45C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*469-45C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*309-45C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.258-45C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+5099C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.286-45C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.324-45C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-5367C>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.75-45C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.153-45C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-45C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*270-45C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*291-45C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.282-45C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.354-45C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.387-45C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.288-45C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.354-45C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-45C>T
  variant of: http://identifiers.org/hgnc/48339
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

2-238939162-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238939162
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238939162
    reference: chr 2
allele count: 42
allele frequency: 4.150115610363432e-4
allele num: 101202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-35C>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.282-35C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.354-35C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.153-35C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*469-35C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.354-35C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.214-35C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-35C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*291-35C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-5357C>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.286-35C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.258-35C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.324-35C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*309-35C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-1701C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*270-35C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.354-35C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.75-35C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.387-35C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.288-35C>G
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-238939163-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238939163
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238939163
    reference: chr 2
allele count: 2
allele frequency: 1.935846061521188e-5
allele num: 103314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.258-34T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.354-34T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-34T>C
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.288-34T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.282-34T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.214-34T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*469-34T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.75-34T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.153-34T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*309-34T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-1700T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-34T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.354-34T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.324-34T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*291-34T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*270-34T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+5110T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.286-34T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-5356T>C
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.354-34T>C
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

2-238939170-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238939170
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238939170
    reference: chr 2
allele count: 1
allele frequency: 9.586992368754074e-6
allele num: 104308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*469-27T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.354-27T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.75-27T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.286-27T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-1693T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.324-27T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-27T>C
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.354-27T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.387-27T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.258-27T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*291-27T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.153-27T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+5117T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.258-27T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.214-27T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*270-27T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.282-27T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.354-27T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*309-27T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-27T>C
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

2-238939175-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238939175
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238939175
    reference: chr 2
allele count: 1
allele frequency: 9.504619244953047e-6
allele num: 105212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*309-22A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-22A>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-1688A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.354-22A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-22A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.288-22A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.354-22A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*291-22A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.214-22A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.282-22A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*469-22A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.153-22A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.258-22A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.286-22A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.354-22A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-5344A>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.387-22A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.324-22A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.75-22A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.258-22A>G
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ

2-238939176-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238939176
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238939174
    reference: chr 2
allele count: 1
allele frequency: 9.483527113404017e-6
allele num: 105446
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.387-15_387-14delGT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.153-15_153-14delGT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*309-15_*309-14delGT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.288-15_288-14delGT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*469-15_*469-14delGT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.354-15_354-14delGT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.214-15_214-14delGT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.258-15_258-14delGT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.354-15_354-14delGT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.75-15_75-14delGT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+5129_353+5130delGT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*291-15_*291-14delGT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.324-15_324-14delGT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.282-15_282-14delGT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-5337_283-5336delGT
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-15_215-14delGT
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-1681_354-1680delGT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.354-15_354-14delGT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.258-15_258-14delGT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*270-15_*270-14delGT
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: CTG
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-238939186-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238939186
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238939186
    reference: chr 2
allele count: 1
allele frequency: 9.264062847402356e-6
allele num: 107944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.215-11G>C
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*469-11G>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.75-11G>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.283-11G>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.282-11G>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*309-11G>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.387-11G>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.153-11G>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.288-11G>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.354-11G>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.324-11G>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.214-11G>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*291-11G>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.258-11G>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.354-11G>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.286-11G>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-5333G>C
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+5133G>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.258-11G>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-1677G>C
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-238939219-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238939219
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238939219
    reference: chr 2
allele count: 1
allele frequency: 8.694140149539211e-6
allele num: 115020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.304G>A
  hgvsp: ENSP00000386680.1:p.Asp102Asn
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.346G>A
  hgvsp: ENSP00000414619.2:p.Asp116Asn
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.409G>A
  hgvsp: ENSP00000396003.1:p.Asp137Asn
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.376G>A
  hgvsp: ENSP00000387299.1:p.Asp126Asn
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.305G>A
  hgvsp: ENST00000455999.1:c.305G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.308G>A
  hgvsp: ENST00000441728.2:c.308G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.280G>A
  hgvsp: ENSP00000390813.1:p.Asp94Asn
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.280G>A
  hgvsp: ENSP00000399183.1:p.Asp94Asn
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.376G>A
  hgvsp: ENSP00000406113.1:p.Asp126Asn
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-5300G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*292G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.310G>A
  hgvsp: ENSP00000387060.1:p.Asp104Asn
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-1644G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*491G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*313G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.236G>A
  hgvsp: ENST00000445676.1:c.236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.175G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.376G>A
  hgvsp: ENSP00000272930.4:p.Asp126Asn
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*331G>A
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp126Asn
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-238939222-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238939222
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238939222
    reference: chr 2
allele count: 1
allele frequency: 8.68311828143723e-6
allele num: 115166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396003
  ensembl transcript: ENST00000448502
  gene symbol: UBE2F
  hgvsc: ENST00000448502.1:c.412G>A
  hgvsp: ENSP00000396003.1:p.Gly138Ser
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*2G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*316G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.349G>A
  hgvsp: ENSP00000414619.2:p.Gly117Ser
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*334G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.379G>A
  hgvsp: ENSP00000387299.1:p.Gly127Ser
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*295G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.379G>A
  hgvsp: ENSP00000272930.4:p.Gly127Ser
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*2G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.379G>A
  hgvsp: ENSP00000406113.1:p.Gly127Ser
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.313G>A
  hgvsp: ENSP00000387060.1:p.Gly105Ser
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*494G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*2G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.283G>A
  hgvsp: ENSP00000399183.1:p.Gly95Ser
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-5297G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.178G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.307G>A
  hgvsp: ENSP00000386680.1:p.Gly103Ser
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+5169G>A
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly127Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

2-238939242-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238939242
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238939242
    reference: chr 2
allele count: 1
allele frequency: 8.737134569346637e-6
allele num: 114454
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.303A>G
  hgvsp: ENST00000414443.1:c.303A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.333A>G
  hgvsp: ENST00000409332.1:c.333A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+5189A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.399A>G
  hgvsp: ENST00000409633.1:c.399A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*38A>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.303A>G
  hgvsp: ENST00000416292.1:c.303A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.369A>G
  hgvsp: ENST00000434137.2:c.369A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*514A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.399A>G
  hgvsp: ENST00000272930.4:c.399A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*22A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.327A>G
  hgvsp: ENST00000409953.1:c.327A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-5277A>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*22A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.120A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.399A>G
  hgvsp: ENST00000434655.1:c.399A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*336A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.198A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*22A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-1621A>G
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr133Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

2-238939262-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238939262
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238939262
    reference: chr 2
allele count: 1
allele frequency: 8.955116953827417e-6
allele num: 111668
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.411+8C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*348+8C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.132+8C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.210+8C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.381+8C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*34+8C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*34+8C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*526+8C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*366+8C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.411+8C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*50+8C>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.411+8C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+5209C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*34+8C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.315+8C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.339+8C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.315+8C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-1601C>G
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.411+8C>G
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

2-238939266-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238939266
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238939266
    reference: chr 2
allele count: 1
allele frequency: 9.013556388808768e-6
allele num: 110944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*34+12G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*50+12G>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.132+12G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.339+12G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-1597G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.411+12G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+5213G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*348+12G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.411+12G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.210+12G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.411+12G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*34+12G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*526+12G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*34+12G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.315+12G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*327+12G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*366+12G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-5253G>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.381+12G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.315+12G>T
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

2-238939275-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238939275
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238939275
    reference: chr 2
allele count: 2
allele frequency: 1.826617469769481e-5
allele num: 109492
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+5222T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*526+21T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.132+21T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*348+21T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.411+21T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-1588T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.345+21T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.210+21T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.411+21T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.411+21T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.339+21T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*34+21T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*34+21T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.315+21T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*34+21T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*327+21T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.381+21T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*50+21T>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-5244T>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*366+21T>G
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-238939281-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238939281
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238939281
    reference: chr 2
allele count: 5
allele frequency: 4.606851309267142e-5
allele num: 108534
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.339+27A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*526+27A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.315+27A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*327+27A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-1582A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.315+27A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*366+27A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.345+27A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+5228A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*50+27A>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-5238A>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*348+27A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.411+27A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*34+27A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.411+27A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.132+27A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.411+27A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*34+27A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*34+27A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.381+27A>G
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-238939283-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238939283
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238939283
    reference: chr 2
allele count: 13
allele frequency: 1.199771120586227e-4
allele num: 108354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.411+29A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*34+29A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*34+29A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*327+29A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.315+29A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*348+29A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.315+29A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*50+29A>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.132+29A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-1580A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*526+29A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.411+29A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.411+29A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.339+29A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.210+29A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-5236A>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+5230A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.345+29A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.381+29A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*366+29A>G
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-238939284-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238939284
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238939284
    reference: chr 2
allele count: 2
allele frequency: 1.849420206765179e-5
allele num: 108142
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-5235A>C
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.315+30A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*348+30A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.339+30A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.315+30A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.345+30A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*327+30A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.381+30A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.210+30A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.132+30A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*34+30A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.411+30A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-1579A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*526+30A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*50+30A>C
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+5231A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*366+30A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*34+30A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.411+30A>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.411+30A>C
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-238939285-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238939285
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238939285
    reference: chr 2
allele count: 1
allele frequency: 9.288673391666203e-6
allele num: 107658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.353+5232G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-1578G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.132+31G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.411+31G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.411+31G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*34+31G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*348+31G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*50+31G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*526+31G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.210+31G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.315+31G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*327+31G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.315+31G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.345+31G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.339+31G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*366+31G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.411+31G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.381+31G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*34+31G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-5234G>A
  variant of: http://identifiers.org/hgnc/48339
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

2-238939296-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238939296
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238939296
    reference: chr 2
allele count: 1
allele frequency: 9.612981370042105e-6
allele num: 104026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.345+42G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*34+42G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*348+42G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.411+42G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*366+42G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.381+42G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.411+42G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*526+42G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.354-5223G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-5223G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*327+42G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.132+42G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.411+42G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.339+42G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*34+42G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*34+42G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.210+42G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*50+42G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-1567G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.315+42G>A
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

2-238939299-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238939299
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238939299
    reference: chr 2
allele count: 1
allele frequency: 9.76657876745776e-6
allele num: 102390
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.411+45C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.315+45C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.411+45C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*327+45C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.345+45C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*526+45C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.354-5220C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.339+45C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.315+45C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-5220C>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*366+45C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*348+45C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.381+45C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*34+45C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.210+45C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.132+45C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*34+45C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-1564C>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*50+45C>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.411+45C>G
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-238939303-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238939303
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238939303
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 101136
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.354-5216T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.315+49T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.132+49T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*348+49T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*34+49T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*34+49T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.210+49T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-1560T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.345+49T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.411+49T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.411+49T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.339+49T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.411+49T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.381+49T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*366+49T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*526+49T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*50+49T>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-5216T>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*34+49T>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*327+49T>G
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

2-238940817-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238940817
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238940817
    reference: chr 2
allele count: 2
allele frequency: 1.739523718405901e-5
allele num: 114974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.316-46T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.316-46T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.412-46T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.340-46T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.346-46T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*35-46T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*35-46T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*35-46T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.412-46T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.382-46T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-46T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.211-46T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*349-46T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*51-46T>C
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*527-46T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*367-46T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.412-46T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*328-46T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.354-3702T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-3702T>C
  variant of: http://identifiers.org/hgnc/48339
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP

2-238940820-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238940820
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238940820
    reference: chr 2
allele count: 1
allele frequency: 8.677843729390121e-6
allele num: 115236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*35-43A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.412-43A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.340-43A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*349-43A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.133-43A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*367-43A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.316-43A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.211-43A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*51-43A>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*527-43A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.382-43A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*328-43A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.412-43A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.412-43A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.346-43A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-43A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.354-3699A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-3699A>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.316-43A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*35-43A>T
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

2-238940826-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238940826
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238940826
    reference: chr 2
allele count: 1
allele frequency: 8.672124323574303e-6
allele num: 115312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.316-37G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-3693G>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-37G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*35-37G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.340-37G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.382-37G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*328-37G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*527-37G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*35-37G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.133-37G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.346-37G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*349-37G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.354-3693G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*35-37G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.412-37G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.412-37G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*367-37G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*51-37G>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.412-37G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.316-37G>T
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

2-238940835-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238940835
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238940835
    reference: chr 2
allele count: 38
allele frequency: 3.275918550319833e-4
allele num: 115998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.340-28T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.211-28T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*35-28T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.354-3684T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.412-28T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*527-28T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.382-28T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*35-28T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.346-28T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.316-28T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-3684T>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*349-28T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*328-28T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*51-28T>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.133-28T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-28T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*35-28T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.412-28T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.412-28T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.316-28T>A
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-238940837-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238940837
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238940836
    reference: chr 2
allele count: 4
allele frequency: 3.446552585776077e-5
allele num: 116058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*35-22delT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.412-22delT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.316-22delT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*527-22delT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*349-22delT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.412-22delT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.412-22delT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.382-22delT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*35-22delT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.354-3678delT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-22delT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.346-22delT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.133-22delT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.316-22delT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.211-22delT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*367-22delT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.340-22delT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*51-22delT
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*35-22delT
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-3678delT
  variant of: http://identifiers.org/hgnc/48339
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: GT
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

2-238940843-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238940843
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238940842
    reference: chr 2
allele count: 1
allele frequency: 8.571330613364419e-6
allele num: 116668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.382-19delG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*349-19delG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.354-3675delG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.133-19delG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*527-19delG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.346-19delG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.412-19delG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-3675delG
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*51-19delG
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*328-19delG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.211-19delG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*35-19delG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.316-19delG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.316-19delG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.412-19delG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*35-19delG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.340-19delG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*35-19delG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.412-19delG
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*367-19delG
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: TG
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP

2-238940844-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238940844
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238940844
    reference: chr 2
allele count: 3
allele frequency: 2.569461098358971e-5
allele num: 116756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*349-19G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*35-19G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.412-19G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-3675G>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.382-19G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*367-19G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.316-19G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.412-19G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*51-19G>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.346-19G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.340-19G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*527-19G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.133-19G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*35-19G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.211-19G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*328-19G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-19G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.412-19G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.316-19G>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*35-19G>T
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

2-238940848-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238940848
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238940848
    reference: chr 2
allele count: 1
allele frequency: 8.531695247845747e-6
allele num: 117210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.133-15T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.211-15T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*527-15T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.354-3671T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*35-15T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.316-15T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.382-15T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-3671T>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*35-15T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*328-15T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.346-15T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.412-15T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*349-15T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*367-15T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.340-15T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.412-15T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*51-15T>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-15T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.316-15T>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*35-15T>A
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-238940848-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238940848
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238940848
    reference: chr 2
allele count: 1
allele frequency: 8.531695247845747e-6
allele num: 117210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.316-15T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*349-15T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.346-15T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*51-15T>C
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-3671T>C
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*35-15T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.211-15T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*35-15T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.382-15T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*367-15T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.340-15T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.412-15T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-15T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.316-15T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*527-15T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*328-15T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.412-15T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.354-3671T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.412-15T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*35-15T>C
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

2-238940849-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238940849
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238940849
    reference: chr 2
allele count: 4
allele frequency: 3.410757529247246e-5
allele num: 117276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-14C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*527-14C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.382-14C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.211-14C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*35-14C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*349-14C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.316-14C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*328-14C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.316-14C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.133-14C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.340-14C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*367-14C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*35-14C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.412-14C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.412-14C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.412-14C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.354-3670C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*51-14C>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.346-14C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*35-14C>T
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

2-238940851-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238940851
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238940851
    reference: chr 2
allele count: 2
allele frequency: 1.700911688665125e-5
allele num: 117584
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*35-12T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*349-12T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.346-12T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.316-12T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.211-12T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.412-12T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*35-12T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*527-12T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*367-12T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.133-12T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-3668T>C
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.340-12T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.412-12T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.354-3668T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.412-12T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.316-12T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*51-12T>C
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.382-12T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*328-12T>C
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*35-12T>C
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

2-238940856-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238940856
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238940856
    reference: chr 2
allele count: 5
allele frequency: 4.230118443316413e-5
allele num: 118200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.211-7A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*328-7A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.382-7A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.340-7A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.316-7A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.316-7A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*35-7A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-3663A>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-7A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.133-7A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*527-7A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.354-3663A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.412-7A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.412-7A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.346-7A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*349-7A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*367-7A>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*35-7A>T
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.412-7A>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

2-238940860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238940860
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238940860
    reference: chr 2
allele count: 1
allele frequency: 8.421619982819896e-6
allele num: 118742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.340-3C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*51-3C>T
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.316-3C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.211-3C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.346-3C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*35-3C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.412-3C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*328-3C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*367-3C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.412-3C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000482096
  gene symbol: UBE2F
  hgvsc: ENST00000482096.1:n.133-3C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*527-3C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*35-3C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*349-3C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.354-3C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.382-3C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*35-3C>T
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.354-3659C>T
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.412-3C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

2-238940869-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238940869
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238940869
    reference: chr 2
allele count: 2
allele frequency: 1.675715530531537e-5
allele num: 119352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*355G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000412965
  ensembl transcript: ENST00000440223
  gene symbol: UBE2F
  hgvsc: ENST00000440223.1:c.*334G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.418G>A
  hgvsp: ENSP00000406113.1:p.Val140Ile
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*41G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000393515
  ensembl transcript: ENST00000433241
  gene symbol: UBE2F
  hgvsc: ENST00000433241.1:c.354-3650G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*41G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408823
  ensembl transcript: ENST00000417231
  gene symbol: UBE2F
  hgvsc: ENST00000417231.1:c.*373G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.217G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000390813
  ensembl transcript: ENST00000416292
  gene symbol: UBE2F
  hgvsc: ENST00000416292.1:c.322G>A
  hgvsp: ENSP00000390813.1:p.Val108Ile
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396630
  ensembl transcript: ENST00000439780
  gene symbol: UBE2F
  hgvsc: ENST00000439780.1:c.360G>A
  hgvsp: ENST00000439780.1:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.352G>A
  hgvsp: ENSP00000387060.1:p.Val118Ile
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.346G>A
  hgvsp: ENSP00000386680.1:p.Val116Ile
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000399183
  ensembl transcript: ENST00000414443
  gene symbol: UBE2F
  hgvsc: ENST00000414443.1:c.322G>A
  hgvsp: ENSP00000399183.1:p.Val108Ile
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*57G>A
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.418G>A
  hgvsp: ENSP00000272930.4:p.Val140Ile
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.388G>A
  hgvsp: ENSP00000414619.2:p.Val130Ile
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387299
  ensembl transcript: ENST00000409633
  gene symbol: UBE2F
  hgvsc: ENST00000409633.1:c.418G>A
  hgvsp: ENSP00000387299.1:p.Val140Ile
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*533G>A
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000456827
  ensembl transcript: ENST00000449191
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449191.1:c.283-3650G>A
  variant of: http://identifiers.org/hgnc/48339
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val140Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

2-238940881-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238940881
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238940881
    reference: chr 2
allele count: 1
allele frequency: 8.358408559010364e-6
allele num: 119640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258984
  ensembl protein: ENSP00000457658
  ensembl transcript: ENST00000449891
  gene symbol: UBE2F-SCLY
  hgvsc: ENST00000449891.1:c.*69A>G
  variant of: http://identifiers.org/hgnc/48339
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000396296
  ensembl transcript: ENST00000445676
  gene symbol: UBE2F
  hgvsc: ENST00000445676.1:c.*53A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000410345
  ensembl transcript: ENST00000439338
  gene symbol: UBE2F
  hgvsc: ENST00000439338.1:c.*367A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000406113
  ensembl transcript: ENST00000434655
  gene symbol: UBE2F
  hgvsc: ENST00000434655.1:c.430A>G
  hgvsp: ENSP00000406113.1:p.Asn144Asp
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000387060
  ensembl transcript: ENST00000409332
  gene symbol: UBE2F
  hgvsc: ENST00000409332.1:c.364A>G
  hgvsp: ENSP00000387060.1:p.Asn122Asp
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184182
  ensembl transcript: ENST00000480828
  gene symbol: UBE2F
  hgvsc: ENST00000480828.1:n.229A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000408676
  ensembl transcript: ENST00000454786
  gene symbol: UBE2F
  hgvsc: ENST00000454786.1:c.*545A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000409749
  ensembl transcript: ENST00000441728
  gene symbol: UBE2F
  hgvsc: ENST00000441728.2:c.*53A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000389685
  ensembl transcript: ENST00000455999
  gene symbol: UBE2F
  hgvsc: ENST00000455999.1:c.*53A>G
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000386680
  ensembl transcript: ENST00000409953
  gene symbol: UBE2F
  hgvsc: ENST00000409953.1:c.358A>G
  hgvsp: ENSP00000386680.1:p.Asn120Asp
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000414619
  ensembl transcript: ENST00000434137
  gene symbol: UBE2F
  hgvsc: ENST00000434137.2:c.400A>G
  hgvsp: ENSP00000414619.2:p.Asn134Asp
  variant of: http://identifiers.org/hgnc/12480
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184182
  ensembl protein: ENSP00000272930
  ensembl transcript: ENST00000272930
  gene symbol: UBE2F
  hgvsc: ENST00000272930.4:c.430A>G
  hgvsp: ENSP00000272930.4:p.Asn144Asp
  variant of: http://identifiers.org/hgnc/12480
canonical: true
consequence: missense
filter: PASS
hgvs: p.Asn144Asp
num of homozygotes: 0
reference allele: A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000406113
ensembl transcript: ENST00000434655
gene symbol: UBE2F
hgvsc: ENST00000434655.1:c.283-36G>A
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 979
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 756
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2404
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4701
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3759
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 838
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 522
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1074
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22199
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15813
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3844
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 262
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1177
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1098
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1817
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1309
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5537
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32044
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1547
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1743
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7733
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2239
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65892
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.763718023823472e-5
allele num: 10242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.889284e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 6.32e0

VQSLOD
type: SiteQuality
SIO_000300: -1.028e0

MQRankSum
type: SiteQuality
SIO_000300: -1.103e0

QD
type: SiteQuality
SIO_000300: 7.65e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000389685
ensembl transcript: ENST00000455999
gene symbol: UBE2F
hgvsc: ENST00000455999.1:c.283-5248C>T
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 22452
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 520
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 756
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1100
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3799
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3705
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4276
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 262
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 833
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1072
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1190
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 16075
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 186
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 979
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 226
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2404
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1670
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1728
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5497
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2154
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1537
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7737
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 32496
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.03692905733722e-5
allele num: 65856
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.771165426850868e-4
allele num: 11292
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.246416552411816e-4
allele num: 16046
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.099e0

DP
type: SiteQuality
SIO_000300: 1.895006e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 1.118e1

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

FS
type: SiteQuality
SIO_000300: 8.042e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000406113
ensembl transcript: ENST00000434655
gene symbol: UBE2F
hgvsc: ENST00000434655.1:c.283-33G>A
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 3825
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1101
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 831
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 22912
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 3795
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1183
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 756
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3544
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16240
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 981
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 522
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 262
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1072
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2401
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7736
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1975
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5497
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33531
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1526
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.562043795620438e-4
allele num: 6576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16056
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.777082518576456e-5
allele num: 10228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.553457592131625e-5
allele num: 65884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.332e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 4.759e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

DP
type: SiteQuality
SIO_000300: 1.899634e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000387299
ensembl transcript: ENST00000409633
gene symbol: UBE2F
hgvsc: ENST00000409633.1:c.283-31C>T
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 1072
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 522
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3348
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3820
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2397
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 758
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3295
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1177
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23382
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 262
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16489
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 374
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 980
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1100
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1475
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34136
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7734
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 344
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1791
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5526
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.228201295465869e-5
allele num: 16056
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.067592985862509e-5
allele num: 65924
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.85e-1

FS
type: SiteQuality
SIO_000300: 5.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.326e0

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

DP
type: SiteQuality
SIO_000300: 1.904735e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000406113
ensembl transcript: ENST00000434655
gene symbol: UBE2F
hgvsc: ENST00000434655.1:c.283-30G>A
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1074
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 522
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 818
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3147
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3889
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1171
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1100
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23797
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 980
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2870
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 262
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2396
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16644
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 758
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 563
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35203
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1484
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7732
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 286
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516622179082747e-5
allele num: 65936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.488372093023256e-4
allele num: 8600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.244555071561916e-4
allele num: 16070
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-1

FS
type: SiteQuality
SIO_000300: 4.26e0

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

DP
type: SiteQuality
SIO_000300: 1.910209e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.187e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.157e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000387299
ensembl transcript: ENST00000409633
gene symbol: UBE2F
hgvsc: ENST00000409633.1:c.283-22_283-19delTCTC
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 1165
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 2795
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17024
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 813
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 980
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 758
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1098
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2315
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1074
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3821
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 24407
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 262
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2397
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 192
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7731
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 730
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5610
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36182
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.092286710107593e-5
allele num: 65990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16070
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.788e0

DP
type: SiteQuality
SIO_000300: 1.917619e6

FS
type: SiteQuality
SIO_000300: 7.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 5.496e1

QD
type: SiteQuality
SIO_000300: 1.456e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000387299
ensembl transcript: ENST00000409633
gene symbol: UBE2F
hgvsc: ENST00000409633.1:c.283-21C>G
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 262
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3888
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 759
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1102
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 981
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2400
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 788
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24646
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1074
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1869
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2396
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17567
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1177
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 520
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5603
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36698
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7732
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 4
allele frequency: 3.905487209529389e-4
allele num: 10242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66038
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.469e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 2.666e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

DP
type: SiteQuality
SIO_000300: 1.92915e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000258984
ensembl protein: ENSP00000457658
ensembl transcript: ENST00000449891
gene symbol: UBE2F-SCLY
hgvsc: ENST00000449891.1:c.215-5220T>C
variant of: http://identifiers.org/hgnc/48339

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000184182
ensembl transcript: ENST00000480828
gene symbol: UBE2F
hgvsc: ENST00000480828.1:n.76T>C
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000406113
ensembl transcript: ENST00000434655
gene symbol: UBE2F
hgvsc: ENST00000434655.1:c.283-6T>C
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 981
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1103
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1075
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1169
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2397
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 374
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 759
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 262
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 704
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3975
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1354
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 902
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 519
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18338
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25895
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7733
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 707
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5670
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39487
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511761504505049e-5
allele num: 66148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.15e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

FS
type: SiteQuality
SIO_000300: 1.225e0

DP
type: SiteQuality
SIO_000300: 1.950825e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000387299
ensembl transcript: ENST00000409633
gene symbol: UBE2F
hgvsc: ENST00000409633.1:c.297A>T
hgvsp: ENSP00000387299.1:p.Lys99Asn
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000396630
ensembl transcript: ENST00000439780
gene symbol: UBE2F
hgvsc: ENST00000439780.1:c.297A>T
hgvsp: ENSP00000396630.1:p.Lys99Asn
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000184182
ensembl transcript: ENST00000482096
gene symbol: UBE2F
hgvsc: ENST00000482096.1:n.18A>T
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25883
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 841
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1074
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19141
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 691
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1166
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1101
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 759
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2396
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 519
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 596
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4023
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 982
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 192
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 262
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5715
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40242
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7730
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 243
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16112
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.949317738791423e-4
allele num: 10260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.997e0

MQ
type: SiteQuality
SIO_000300: 5.815e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.048999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.339e1

DP
type: SiteQuality
SIO_000300: 1.962789e6

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000414619
ensembl transcript: ENST00000434137
gene symbol: UBE2F
hgvsc: ENST00000434137.2:c.276C>G
hgvsp: ENST00000434137.2:c.276C>G(p.%3D)
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000389685
ensembl transcript: ENST00000455999
gene symbol: UBE2F
hgvsc: ENST00000455999.1:c.283-5191C>G
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000387299
ensembl transcript: ENST00000409633
gene symbol: UBE2F
hgvsc: ENST00000409633.1:c.306C>G
hgvsp: ENST00000409633.1:c.306C>G(p.%3D)
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 816
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 519
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25545
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 374
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1106
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19333
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4061
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 981
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 262
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1175
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 890
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 759
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2397
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1075
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 515
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5631
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7732
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 40118
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.86051963274077e-4
allele num: 10238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16092
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.96281e6

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 4.459e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

QD
type: SiteQuality
SIO_000300: 1.303e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.091e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000184182
ensembl transcript: ENST00000480828
gene symbol: UBE2F
hgvsc: ENST00000480828.1:n.117C>T
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000396630
ensembl transcript: ENST00000439780
gene symbol: UBE2F
hgvsc: ENST00000439780.1:c.318C>T
hgvsp: ENST00000439780.1:c.318C>T(p.%3D)
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000258984
ensembl protein: ENSP00000457658
ensembl transcript: ENST00000449891
gene symbol: UBE2F-SCLY
hgvsc: ENST00000449891.1:c.215-5179C>T
variant of: http://identifiers.org/hgnc/48339

GenotypeDepth
all individuals: 1170
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 262
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24786
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1240
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1156
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19479
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4020
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 759
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 487
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 981
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1106
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 519
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1074
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2396
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1998
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40105
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7729
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 267
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5552
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15992
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.922198429693076e-5
allele num: 11208
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.954966e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

QD
type: SiteQuality
SIO_000300: 9.01e0

VQSLOD
type: SiteQuality
SIO_000300: 3.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000390813
ensembl transcript: ENST00000416292
gene symbol: UBE2F
hgvsc: ENST00000416292.1:c.225C>G
hgvsp: ENST00000416292.1:c.225C>G(p.%3D)
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000272930
ensembl transcript: ENST00000272930
gene symbol: UBE2F
hgvsc: ENST00000272930.4:c.321C>G
hgvsp: ENST00000272930.4:c.321C>G(p.%3D)
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000412965
ensembl transcript: ENST00000440223
gene symbol: UBE2F
hgvsc: ENST00000440223.1:c.*237C>G
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 1075
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1102
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19467
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 759
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 983
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 262
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1479
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3991
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2397
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 519
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 375
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1175
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24306
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1346
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2360
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39408
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7728
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5446
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65410
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.508780732563974e-4
allele num: 15944
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.949403e6

FS
type: SiteQuality
SIO_000300: 8.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.196e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.063e1

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000396630
ensembl transcript: ENST00000439780
gene symbol: UBE2F
hgvsc: ENST00000439780.1:c.345A>C
hgvsp: ENST00000439780.1:c.345A>C(p.%3D)
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000410345
ensembl transcript: ENST00000439338
gene symbol: UBE2F
hgvsc: ENST00000439338.1:c.*282A>C
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000184182
ensembl transcript: ENST00000480828
gene symbol: UBE2F
hgvsc: ENST00000480828.1:n.144A>C
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 1094
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3726
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5376
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 262
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17858
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19361
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1083
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 982
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3791
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2396
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 519
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1073
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1134
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 759
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7524
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7721
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 841
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33639
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4878
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.597750367482585e-5
allele num: 62588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.92e-1

FS
type: SiteQuality
SIO_000300: 1.654e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.99e-1

QD
type: SiteQuality
SIO_000300: 9.050000000000001e0

DP
type: SiteQuality
SIO_000300: 1.860249e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000389685
ensembl transcript: ENST00000455999
gene symbol: UBE2F
hgvsc: ENST00000455999.1:c.283-5122_283-5119delTCTT
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000393515
ensembl transcript: ENST00000433241
gene symbol: UBE2F
hgvsc: ENST00000433241.1:c.353+22_353+25delTCTT
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 3727
bin: 1.75e1
variant carriers: 11

GenotypeDepth
all individuals: 373
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2406
bin: 9.75e1
variant carriers: 20

GenotypeDepth
all individuals: 226
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19797
bin: 1.25e1
variant carriers: 6

GenotypeDepth
all individuals: 1072
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8930
bin: 2.75e1
variant carriers: 7

GenotypeDepth
all individuals: 516
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 382
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 983
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7209
bin: 2.25e1
variant carriers: 13

GenotypeDepth
all individuals: 2485
bin: 3.25e1
variant carriers: 4

GenotypeDepth
all individuals: 8754
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1068
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 192
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 757
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1089
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2248
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3873
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21930
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3956
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14062
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1569
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7764
bin: 9.75e1
variant carriers: 69

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14414
num of homozygotes: 0

African
type: Population
allele count: 67
allele frequency: 7.349714787187363e-3
allele num: 9116
num of homozygotes: 1

Latino
type: Population
allele count: 2
allele frequency: 2.215820961666297e-4
allele num: 9026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7358
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.315e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

FS
type: SiteQuality
SIO_000300: 1.247e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

MQ
type: SiteQuality
SIO_000300: 5.708e1

DP
type: SiteQuality
SIO_000300: 1.565906e6

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000272930
ensembl transcript: ENST00000272930
gene symbol: UBE2F
hgvsc: ENST00000272930.4:c.353+19_353+21delCTT
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000386680
ensembl transcript: ENST00000409953
gene symbol: UBE2F
hgvsc: ENST00000409953.1:c.281+19_281+21delCTT
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7203
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2455
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2386
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8813
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 386
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 516
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19850
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1063
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3627
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8911
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1072
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1089
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 982
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 757
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3954
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2246
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7697
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 14516
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22083
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3848
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.567097096382964e-5
allele num: 56068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9032
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8988
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.203e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.78e-1

DP
type: SiteQuality
SIO_000300: 1.558482e6

QD
type: SiteQuality
SIO_000300: 1.556e1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.761e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000258984
ensembl protein: ENSP00000457658
ensembl transcript: ENST00000449891
gene symbol: UBE2F-SCLY
hgvsc: ENST00000449891.1:c.215-5124T>G
variant of: http://identifiers.org/hgnc/48339

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000389685
ensembl transcript: ENST00000455999
gene symbol: UBE2F
hgvsc: ENST00000455999.1:c.283-5124T>G
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 2184
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 595
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 981
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1073
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1089
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7165
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 516
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5586
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2404
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22054
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1049
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4411
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 192
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9294
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 757
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1977
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23615
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1833
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4541
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4528
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11475
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7694
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8850
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.811922449719152e-5
allele num: 55190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5762
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

FS
type: SiteQuality
SIO_000300: 8.451000000000001e0

QD
type: SiteQuality
SIO_000300: 1.71e1

DP
type: SiteQuality
SIO_000300: 1.515557e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.472e0

MQ
type: SiteQuality
SIO_000300: 5.845e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000390813
ensembl transcript: ENST00000416292
gene symbol: UBE2F
hgvsc: ENST00000416292.1:c.257+24T>C
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000258984
ensembl protein: ENSP00000456827
ensembl transcript: ENST00000449191
gene symbol: UBE2F-SCLY
hgvsc: ENST00000449191.1:c.282+8802T>C
variant of: http://identifiers.org/hgnc/48339

GenotypeDepth
all individuals: 1072
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23683
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4463
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 517
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1710
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5125
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5575
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9872
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 936
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2402
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1082
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 993
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 758
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 981
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5260
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4995
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7719
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 453
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24552
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8457
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.836074872376631e-4
allele num: 7052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14050
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53924
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5680
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.603e0

DP
type: SiteQuality
SIO_000300: 1.460988e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.244e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

QD
type: SiteQuality
SIO_000300: 1.063e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e-1

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000258984
ensembl protein: ENSP00000456827
ensembl transcript: ENST00000449191
gene symbol: UBE2F-SCLY
hgvsc: ENST00000449191.1:c.282+8806A>G
variant of: http://identifiers.org/hgnc/48339

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000406113
ensembl transcript: ENST00000434655
gene symbol: UBE2F
hgvsc: ENST00000434655.1:c.353+28A>G
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 976
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 759
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6199
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 260
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 981
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24022
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3874
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1081
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1499
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1248
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1072
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10527
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4003
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2402
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6742
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5688
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5194
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24611
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2520
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7718
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 428
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5608
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.22334585379948e-5
allele num: 13844
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.324e1

FS
type: SiteQuality
SIO_000300: 6.388e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

VQSLOD
type: SiteQuality
SIO_000300: -7.224e-1

DP
type: SiteQuality
SIO_000300: 1.430034e6

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000272930
ensembl transcript: ENST00000272930
gene symbol: UBE2F
hgvsc: ENST00000272930.4:c.353+37_353+40delAGTG
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000412965
ensembl transcript: ENST00000440223
gene symbol: UBE2F
hgvsc: ENST00000440223.1:c.*269+37_*269+40delAGTG
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 260
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1341
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7032
bin: 1.75e1
variant carriers: 4

GenotypeDepth
all individuals: 193
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 758
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1072
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1573
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2402
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1080
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11369
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 981
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2999
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 373
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 962
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23718
bin: 1.25e1
variant carriers: 5

GenotypeDepth
all individuals: 3353
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5339
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5328
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7731
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 640
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24291
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6022
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2752
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51178
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.248127808287569e-4
allele num: 8012
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 1.745810055865922e-3
allele num: 8592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

QD
type: SiteQuality
SIO_000300: 1.243e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

DP
type: SiteQuality
SIO_000300: 1.402302e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

FS
type: SiteQuality
SIO_000300: 2.665e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.102e0

MQ
type: SiteQuality
SIO_000300: 5.387e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000389685
ensembl transcript: ENST00000455999
gene symbol: UBE2F
hgvsc: ENST00000455999.1:c.283-5110G>A
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000272930
ensembl transcript: ENST00000272930
gene symbol: UBE2F
hgvsc: ENST00000272930.4:c.353+34G>A
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11536
bin: 7.5e0
variant carriers: 4

GenotypeDepth
all individuals: 193
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1310
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7122
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 3184
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1071
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1645
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1077
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 758
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 962
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23723
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 2400
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 260
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 981
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2854
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5387
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6059
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24306
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2417
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 930
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5136
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 314
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 523
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2791
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7722
bin: 9.75e1
variant carriers: 9

Latino
type: Population
allele count: 5
allele frequency: 6.287726358148893e-4
allele num: 7952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.889281507656066e-5
allele num: 50940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.171508903467666e-4
allele num: 8536
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.371369600471768e-5
allele num: 13566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.776e0

FS
type: SiteQuality
SIO_000300: 2.902e0

QD
type: SiteQuality
SIO_000300: 1.226e1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

DP
type: SiteQuality
SIO_000300: 1.396365e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000396003
ensembl transcript: ENST00000448502
gene symbol: UBE2F
hgvsc: ENST00000448502.1:c.386+43_386+44delAT
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000396630
ensembl transcript: ENST00000439780
gene symbol: UBE2F
hgvsc: ENST00000439780.1:c.353+43_353+44delAT
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 2334
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1705
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 954
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21576
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 758
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1973
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 14016
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1074
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1071
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 981
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1158
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2402
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8592
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3460
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2292
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2643
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7719
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4035
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6446
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19924
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5318
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3064
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7096
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.221896383186706e-4
allele num: 8184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.61e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.355998e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.489e0

QD
type: SiteQuality
SIO_000300: 1.772e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000396630
ensembl transcript: ENST00000439780
gene symbol: UBE2F
hgvsc: ENST00000439780.1:c.353+50_353+51insAC
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000414619
ensembl transcript: ENST00000434137
gene symbol: UBE2F
hgvsc: ENST00000434137.2:c.323+50_323+51insAC
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 758
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2854
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2054
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 982
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1008
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8093
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 932
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1069
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16420
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1075
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 19561
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1324
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 2402
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4214
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7272
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14610
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6455
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7722
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 533
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1216
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3776
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3493
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.776309504855915e-4
allele num: 12562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4924
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6076
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.396e0

MQRankSum
type: SiteQuality
SIO_000300: -1.432e0

MQ
type: SiteQuality
SIO_000300: 5.739e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

QD
type: SiteQuality
SIO_000300: 3.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.681e0

DP
type: SiteQuality
SIO_000300: 1.338328e6

VQSLOD
type: SiteQuality
SIO_000300: -1.029e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000390813
ensembl transcript: ENST00000416292
gene symbol: UBE2F
hgvsc: ENST00000416292.1:c.257+51G>A
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000258984
ensembl protein: ENSP00000456827
ensembl transcript: ENST00000449191
gene symbol: UBE2F-SCLY
hgvsc: ENST00000449191.1:c.282+8829G>A
variant of: http://identifiers.org/hgnc/48339

GenotypeDepth
all individuals: 16526
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2061
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1004
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 758
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19467
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1075
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2863
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8074
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1318
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 982
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 929
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1069
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2402
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5090
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4181
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3816
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7720
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 315
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8009
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13800
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3479
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6415
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.01153661272232e-5
allele num: 12482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4860
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.625e1

VQSLOD
type: SiteQuality
SIO_000300: -3.143e0

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 2.98e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-2

DP
type: SiteQuality
SIO_000300: 1.337663e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.931e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000406113
ensembl transcript: ENST00000434655
gene symbol: UBE2F
hgvsc: ENST00000434655.1:c.353+52_353+53insTTG
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000390813
ensembl transcript: ENST00000416292
gene symbol: UBE2F
hgvsc: ENST00000416292.1:c.257+52_257+53insTTG
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 260
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1070
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 758
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8056
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 927
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2402
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2061
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1004
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1310
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 16547
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1076
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19463
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2869
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 982
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4126
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12936
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3459
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3824
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 346
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7723
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 892
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8803
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6394
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5046
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.857512953367876e-4
allele num: 12352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4796
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: -1.113e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.462e0

QD
type: SiteQuality
SIO_000300: 7.11e0

MQ
type: SiteQuality
SIO_000300: 5.728e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

DP
type: SiteQuality
SIO_000300: 1.337515e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000393515
ensembl transcript: ENST00000433241
gene symbol: UBE2F
hgvsc: ENST00000433241.1:c.353+52C>T
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000408676
ensembl transcript: ENST00000454786
gene symbol: UBE2F
hgvsc: ENST00000454786.1:c.*468+52C>T
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 293
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16547
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 19463
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1310
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2869
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2061
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 927
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 982
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1004
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1076
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2402
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8056
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 758
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1070
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3459
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12936
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4126
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 311
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6394
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3824
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8803
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7723
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5046
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41226
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.113e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.462e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 1.337515e6

QD
type: SiteQuality
SIO_000300: 7.11e0

MQ
type: SiteQuality
SIO_000300: 5.728e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000396630
ensembl transcript: ENST00000439780
gene symbol: UBE2F
hgvsc: ENST00000439780.1:c.354-1711C>T
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000390813
ensembl transcript: ENST00000416292
gene symbol: UBE2F
hgvsc: ENST00000416292.1:c.258-45C>T
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 166
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3489
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1417
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 631
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13112
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2111
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7760
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 292
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17851
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8413
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 933
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2766
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 478
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7015
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8904
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7421
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4578
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3218
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4596
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1776
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2348
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5853
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 699
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7870
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 5.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55960
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.981290142418318e-5
allele num: 14324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8728
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.87e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

DP
type: SiteQuality
SIO_000300: 1.441772e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.474e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.109e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000390813
ensembl transcript: ENST00000416292
gene symbol: UBE2F
hgvsc: ENST00000416292.1:c.258-35C>G
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000393515
ensembl transcript: ENST00000433241
gene symbol: UBE2F
hgvsc: ENST00000433241.1:c.353+5109C>G
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 12632
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9140
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 207
bin: 7.25e1
variant carriers: 6

GenotypeDepth
all individuals: 8215
bin: 7.5e0
variant carriers: 7

GenotypeDepth
all individuals: 191
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17141
bin: 1.25e1
variant carriers: 17

GenotypeDepth
all individuals: 1335
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2024
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 6.75e1
variant carriers: 7

GenotypeDepth
all individuals: 562
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3787
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 211
bin: 7.75e1
variant carriers: 6

GenotypeDepth
all individuals: 474
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2588
bin: 9.75e1
variant carriers: 7

GenotypeDepth
all individuals: 207
bin: 9.25e1
variant carriers: 4

GenotypeDepth
all individuals: 906
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 183
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 431
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 12878
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1008
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 383
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 633
bin: 1.25e1
variant carriers: 5

GenotypeQuality
all individuals: 873
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 6390
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4319
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 555
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6936
bin: 3.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1116
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1762
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2625
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 9236
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 771
bin: 1.75e1
variant carriers: 7

GenotypeQuality
all individuals: 887
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5658
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 671
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2864
bin: 4.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7510
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.01419878296146e-4
allele num: 9860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 4.0e-4
allele num: 5000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.292293233082707e-3
allele num: 8512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 5.072463768115942e-4
allele num: 55200
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.066e1

FS
type: SiteQuality
SIO_000300: 4.3809e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 1.446763e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQ
type: SiteQuality
SIO_000300: 5.906e1

QD
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.843e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000390813
ensembl transcript: ENST00000416292
gene symbol: UBE2F
hgvsc: ENST00000416292.1:c.258-34T>C
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000396003
ensembl transcript: ENST00000448502
gene symbol: UBE2F
hgvsc: ENST00000448502.1:c.387-34T>C
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 8625
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1329
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2010
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16992
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8186
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 567
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 475
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 13261
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2578
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3869
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 909
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 197
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9633
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7049
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2518
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5885
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 720
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6333
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13717
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4427
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2670
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8784
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.386385692499653e-4
allele num: 14426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9924
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.291e0

VQSLOD
type: SiteQuality
SIO_000300: 9.340000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.374e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

DP
type: SiteQuality
SIO_000300: 1.451041e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.173e1

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000258984
ensembl protein: ENSP00000456827
ensembl transcript: ENST00000449191
gene symbol: UBE2F-SCLY
hgvsc: ENST00000449191.1:c.283-5349T>C
variant of: http://identifiers.org/hgnc/48339

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000387060
ensembl transcript: ENST00000409332
gene symbol: UBE2F
hgvsc: ENST00000409332.1:c.288-27T>C
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 1332
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4514
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2075
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7982
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 911
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17625
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5977
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14933
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2578
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2064
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9820
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18504
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1762
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6273
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4946
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4074
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5885
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.755001755001755e-5
allele num: 56980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7688
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14530
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

FS
type: SiteQuality
SIO_000300: 2.764e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.113e0

DP
type: SiteQuality
SIO_000300: 1.494894e6

QD
type: SiteQuality
SIO_000300: 6.17e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000393515
ensembl transcript: ENST00000433241
gene symbol: UBE2F
hgvsc: ENST00000433241.1:c.353+5122A>G
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000412965
ensembl transcript: ENST00000440223
gene symbol: UBE2F
hgvsc: ENST00000440223.1:c.*270-22A>G
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 197
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12957
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2129
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2578
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1339
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4639
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7633
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5175
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 912
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20707
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9352
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5424
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21562
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2179
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3978
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5885
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1392
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.739130434782609e-5
allele num: 57500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8932
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.227e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.312e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.533107e6

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.861e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000389685
ensembl transcript: ENST00000455999
gene symbol: UBE2F
hgvsc: ENST00000455999.1:c.283-15_283-14delGT
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000409749
ensembl transcript: ENST00000441728
gene symbol: UBE2F
hgvsc: ENST00000441728.2:c.286-15_286-14delGT
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 473
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 913
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7563
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12500
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2578
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21343
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2148
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1337
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4439
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5269
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9311
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5248
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1291
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3740
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3611
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22361
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5885
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 927
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57630
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.852131012744963e-5
allele num: 14594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5570
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.36e-1

MQ
type: SiteQuality
SIO_000300: 6.054e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

DP
type: SiteQuality
SIO_000300: 1.54056e6

MQRankSum
type: SiteQuality
SIO_000300: 8.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 2.282e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000387299
ensembl transcript: ENST00000409633
gene symbol: UBE2F
hgvsc: ENST00000409633.1:c.354-11G>C
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000412965
ensembl transcript: ENST00000440223
gene symbol: UBE2F
hgvsc: ENST00000440223.1:c.*270-11G>C
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27372
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2683
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8417
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6194
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1341
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 911
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2217
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6512
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2578
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3448
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2636
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2274
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7893
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28891
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5886
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 943
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14748
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.691761123329386e-5
allele num: 59110
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.612064e6

QD
type: SiteQuality
SIO_000300: 1.456e1

MQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.305e0

VQSLOD
type: SiteQuality
SIO_000300: 6.99e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.395e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000184182
ensembl transcript: ENST00000482096
gene symbol: UBE2F
hgvsc: ENST00000482096.1:n.97G>A
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000258984
ensembl protein: ENSP00000457658
ensembl transcript: ENST00000449891
gene symbol: UBE2F-SCLY
hgvsc: ENST00000449891.1:c.*15G>A
variant of: http://identifiers.org/hgnc/48339

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000393515
ensembl transcript: ENST00000433241
gene symbol: UBE2F
hgvsc: ENST00000433241.1:c.353+5166G>A
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 2445
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3129
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35949
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 829
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8792
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2330
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2578
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1358
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 911
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4110
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3082
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5887
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 358
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40623
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.578781180928323e-4
allele num: 6334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63214
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

QD
type: SiteQuality
SIO_000300: 1.105e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.08e-1

DP
type: SiteQuality
SIO_000300: 1.74878e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000184182
ensembl transcript: ENST00000482096
gene symbol: UBE2F
hgvsc: ENST00000482096.1:n.100G>A
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000390813
ensembl transcript: ENST00000416292
gene symbol: UBE2F
hgvsc: ENST00000416292.1:c.283G>A
hgvsp: ENSP00000390813.1:p.Gly95Ser
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000396630
ensembl transcript: ENST00000439780
gene symbol: UBE2F
hgvsc: ENST00000439780.1:c.354-1641G>A
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 1360
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8931
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2297
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 474
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35862
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 913
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2468
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 849
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3062
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2578
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4073
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40432
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3117
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5887
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579978512292233e-5
allele num: 63292
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.096e0

MQRankSum
type: SiteQuality
SIO_000300: -8.79e-1

DP
type: SiteQuality
SIO_000300: 1.751104e6

QD
type: SiteQuality
SIO_000300: 1.384e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.25e-1

FS
type: SiteQuality
SIO_000300: 1.208e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000412965
ensembl transcript: ENST00000440223
gene symbol: UBE2F
hgvsc: ENST00000440223.1:c.*315A>G
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000408823
ensembl transcript: ENST00000417231
gene symbol: UBE2F
hgvsc: ENST00000417231.1:c.*354A>G
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 290
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 910
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3416
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2485
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 997
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10004
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32866
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1349
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2579
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3703
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3014
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5886
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 881
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38080
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5513
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.507027589796981e-5
allele num: 15368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62838
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.182e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.062e1

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

DP
type: SiteQuality
SIO_000300: 1.738343e6

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000412965
ensembl transcript: ENST00000440223
gene symbol: UBE2F
hgvsc: ENST00000440223.1:c.*327+8C>G
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000387060
ensembl transcript: ENST00000409332
gene symbol: UBE2F
hgvsc: ENST00000409332.1:c.345+8C>G
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000258984
ensembl protein: ENSP00000456827
ensembl transcript: ENST00000449191
gene symbol: UBE2F-SCLY
hgvsc: ENST00000449191.1:c.283-5257C>G
variant of: http://identifiers.org/hgnc/48339

GenotypeDepth
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2430
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 910
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9032
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 474
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4699
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1991
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25958
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9294
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2578
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1362
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9691
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2228
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2738
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2302
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31699
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5886
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 948
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.636179194345365e-5
allele num: 61118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15104
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.532e-1

DP
type: SiteQuality
SIO_000300: 1.657853e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

QD
type: SiteQuality
SIO_000300: 1.139e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.97e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.897e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000387060
ensembl transcript: ENST00000409332
gene symbol: UBE2F
hgvsc: ENST00000409332.1:c.345+12G>T
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 179
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 10971
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2620
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2436
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5011
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1355
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8909
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 910
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23443
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2578
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10931
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2760
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28920
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2609
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5886
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2925
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15030
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.646849576759659e-5
allele num: 60722
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.227e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.161e0

FS
type: SiteQuality
SIO_000300: 7.256e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.629006e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000399183
ensembl transcript: ENST00000414443
gene symbol: UBE2F
hgvsc: ENST00000414443.1:c.315+21T>G
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 2287
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17596
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4634
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 912
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15764
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5599
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1348
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2579
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7399
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 353
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4841
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2182
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22149
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5887
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 13607
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4009
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14916
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.340124920672033e-5
allele num: 59878
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.551958e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

QD
type: SiteQuality
SIO_000300: 1.023e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl transcript: ENST00000480828
gene symbol: UBE2F
hgvsc: ENST00000480828.1:n.210+27A>G
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 1351
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6264
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 178
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 911
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7172
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13140
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 355
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2216
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5896
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2579
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 292
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18454
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16743
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1913
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4847
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14799
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3538
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5889
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 6352
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.432556413802409e-5
allele num: 59294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7924
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 4.223e0

VQSLOD
type: SiteQuality
SIO_000300: 3.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

QD
type: SiteQuality
SIO_000300: 1.053e1

MQ
type: SiteQuality
SIO_000300: 5.917e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

DP
type: SiteQuality
SIO_000300: 1.499667e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000409749
ensembl transcript: ENST00000441728
gene symbol: UBE2F
hgvsc: ENST00000441728.2:c.*34+29A>G
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 5942
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2188
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8014
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 391
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 911
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5964
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 196
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2579
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18939
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 178
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12061
bin: 2.25e1
variant carriers: 7

GenotypeDepth
all individuals: 197
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1350
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6782
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14990
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15533
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5065
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5897
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 322
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1889
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 13
allele frequency: 1.250480954213159e-3
allele num: 10396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.171e0

DP
type: SiteQuality
SIO_000300: 1.487045e6

QD
type: SiteQuality
SIO_000300: 1.563e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000396296
ensembl transcript: ENST00000445676
gene symbol: UBE2F
hgvsc: ENST00000445676.1:c.*34+30A>C
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 909
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8891
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 197
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2579
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5654
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6038
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 19239
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11090
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2173
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1347
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1865
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 680
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4183
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5887
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 14264
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5255
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15056
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7129
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.35189941868325e-4
allele num: 14794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.476249e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.646e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.197e0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000409749
ensembl transcript: ENST00000441728
gene symbol: UBE2F
hgvsc: ENST00000441728.2:c.*34+31G>A
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 475
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 909
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1349
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19522
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2160
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6132
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5227
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10226
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9759
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2579
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14990
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12158
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7527
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5453
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5886
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 387
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4703
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.701780061944794e-5
allele num: 58762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9254
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.195e0

QD
type: SiteQuality
SIO_000300: 8.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.365e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

DP
type: SiteQuality
SIO_000300: 1.461996e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000399183
ensembl transcript: ENST00000414443
gene symbol: UBE2F
hgvsc: ENST00000414443.1:c.315+42G>A
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 292
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2579
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1345
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6491
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14010
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2001
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19164
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 909
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7573
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3665
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 473
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1217
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14515
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2124
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1965
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1432
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5808
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5886
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8543
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6145
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8968
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.957973838018369e-5
allele num: 14372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.414448e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.513e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.625e0

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.398e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.247e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000389685
ensembl transcript: ENST00000455999
gene symbol: UBE2F
hgvsc: ENST00000455999.1:c.*34+45C>G
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 608
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13875
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3094
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1343
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8250
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2579
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18697
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7015
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1958
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 472
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 912
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8679
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5819
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13467
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2669
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5886
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 692
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5000
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6467
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2422
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8878
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.344447432105405e-4
allele num: 7438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55686
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.729e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.965e1

FS
type: SiteQuality
SIO_000300: 1.865e0

MQRankSum
type: SiteQuality
SIO_000300: -5.74e-1

DP
type: SiteQuality
SIO_000300: 1.40537e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.817e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000390813
ensembl transcript: ENST00000416292
gene symbol: UBE2F
hgvsc: ENST00000416292.1:c.315+49T>G
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 7088
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18557
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 618
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13653
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 909
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8628
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3023
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1931
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2579
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1344
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 472
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5885
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3032
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2503
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6517
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2658
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3984
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1306
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5787
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12648
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8705
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8776
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54980
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

QD
type: SiteQuality
SIO_000300: 1.662e1

VQSLOD
type: SiteQuality
SIO_000300: -7.027e-1

MQ
type: SiteQuality
SIO_000300: 5.519e1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

DP
type: SiteQuality
SIO_000300: 1.401623e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl transcript: ENST00000482096
gene symbol: UBE2F
hgvsc: ENST00000482096.1:n.133-46T>C
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 10116
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2735
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5111
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 247
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2467
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8731
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3040
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8764
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1099
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1813
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 818
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13517
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 498
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3791
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4554
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2448
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4402
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13816
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1866
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2495
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1432
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4475
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3197
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1974
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9312
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.600717121270329e-5
allele num: 62472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.908838684106223e-5
allele num: 10092
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15836
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.097e1

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.599e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-1

FS
type: SiteQuality
SIO_000300: 1.2411e1

DP
type: SiteQuality
SIO_000300: 1.87424e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000389685
ensembl transcript: ENST00000455999
gene symbol: UBE2F
hgvsc: ENST00000455999.1:c.*35-43A>T
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 228
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9004
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1817
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8530
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 818
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5204
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15371
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1099
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8157
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 498
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2718
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2467
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3046
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3318
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4347
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2231
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4625
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2025
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16169
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3739
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9322
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2020
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1527
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3338
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.307556452630251e-5
allele num: 15854
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

DP
type: SiteQuality
SIO_000300: 1.887563e6

QD
type: SiteQuality
SIO_000300: 1.143e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl transcript: ENST00000480828
gene symbol: UBE2F
hgvsc: ENST00000480828.1:n.211-37G>T
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 7562
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9466
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1818
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2708
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 818
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 498
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5031
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18857
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5400
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1100
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2467
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3057
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2032
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2039
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3408
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4748
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1567
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3493
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3351
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1443
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20490
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2562
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9325
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1794
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.595099853250813e-5
allele num: 62692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.107e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

QD
type: SiteQuality
SIO_000300: 1.262e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

FS
type: SiteQuality
SIO_000300: 1.699e0

VQSLOD
type: SiteQuality
SIO_000300: 4.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.917042e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000408823
ensembl transcript: ENST00000417231
gene symbol: UBE2F
hgvsc: ENST00000417231.1:c.*367-28T>A
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 1827
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 159
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 101
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2547
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1100
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 23358
bin: 2.25e1
variant carriers: 6

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5556
bin: 3.25e1
variant carriers: 5

GenotypeDepth
all individuals: 2191
bin: 1.75e1
variant carriers: 5

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 317
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5198
bin: 1.25e1
variant carriers: 5

GenotypeDepth
all individuals: 3072
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 818
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 498
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10226
bin: 2.75e1
variant carriers: 8

GenotypeDepth
all individuals: 2467
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 687
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2100
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3073
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2394
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5034
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25607
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9367
bin: 9.75e1
variant carriers: 38

GenotypeQuality
all individuals: 1455
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 33
allele frequency: 5.22581871159815e-4
allele num: 63148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.46907400786557e-4
allele num: 11188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15926
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.96303e6

QD
type: SiteQuality
SIO_000300: 1.243e1

VQSLOD
type: SiteQuality
SIO_000300: 5.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.058e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000412965
ensembl transcript: ENST00000440223
gene symbol: UBE2F
hgvsc: ENST00000440223.1:c.*328-22delT
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 10425
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3074
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 498
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1099
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23741
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 319
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4850
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2493
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1831
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 819
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5592
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1979
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2466
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25798
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3006
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2608
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5028
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2058
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9338
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1766
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1281
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.868549172346641e-4
allele num: 8216
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

FS
type: SiteQuality
SIO_000300: 7.98e-1

QD
type: SiteQuality
SIO_000300: 1.539e1

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

DP
type: SiteQuality
SIO_000300: 1.970176e6

MQ
type: SiteQuality
SIO_000300: 5.935e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000396630
ensembl transcript: ENST00000439780
gene symbol: UBE2F
hgvsc: ENST00000439780.1:c.354-19delG
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5641
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1100
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25552
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2268
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1830
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3072
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 819
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1261
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2466
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3529
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10858
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 319
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9336
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1163
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28777
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2102
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5188
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2660
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2711
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.572425938738285e-5
allele num: 63596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8284
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

MQ
type: SiteQuality
SIO_000300: 6.032e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.198e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 1.993196e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000393515
ensembl transcript: ENST00000433241
gene symbol: UBE2F
hgvsc: ENST00000433241.1:c.354-3675G>T
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 183
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1164
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5672
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2466
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1833
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 819
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1101
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3083
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25804
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3298
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2205
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10954
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 319
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29261
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9340
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1454
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5171
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2642
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2648
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2090
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.610977371208474e-4
allele num: 8308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.507e0

DP
type: SiteQuality
SIO_000300: 1.998024e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.286e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.828000000000001e-1

QD
type: SiteQuality
SIO_000300: 8.960000000000001e0

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000272930
ensembl transcript: ENST00000272930
gene symbol: UBE2F
hgvsc: ENST00000272930.4:c.412-15T>A
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 5666
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2466
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 865
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2638
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2023
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 319
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26745
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1099
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3082
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1832
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11175
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 819
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2096
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2127
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2388
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9341
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1018
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30294
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5252
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2676
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16026
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564112991522508e-5
allele num: 63934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.622e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 2.009775e6

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

QD
type: SiteQuality
SIO_000300: 1.352e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl transcript: ENST00000482096
gene symbol: UBE2F
hgvsc: ENST00000482096.1:n.133-15T>C
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 335
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5666
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11175
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2023
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 819
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1832
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2466
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26745
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3082
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 865
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2638
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1099
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 319
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2676
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30294
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2127
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2388
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9341
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 283
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2096
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5252
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564112991522508e-5
allele num: 63934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16026
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.009775e6

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

FS
type: SiteQuality
SIO_000300: 6.622e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

QD
type: SiteQuality
SIO_000300: 1.352e1

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000258984
ensembl protein: ENSP00000456827
ensembl transcript: ENST00000449191
gene symbol: UBE2F-SCLY
hgvsc: ENST00000449191.1:c.283-3670C>T
variant of: http://identifiers.org/hgnc/48339

GenotypeDepth
all individuals: 812
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1100
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1950
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5743
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1834
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26834
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3090
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2466
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11275
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 819
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 319
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2489
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 315
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2322
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2081
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30512
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9330
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1018
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5211
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2658
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.689258471926972e-5
allele num: 63976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.815469179426777e-5
allele num: 10188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16024
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.014086e6

MQ
type: SiteQuality
SIO_000300: 5.679e1

VQSLOD
type: SiteQuality
SIO_000300: -6.920999999999999e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e0

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

FS
type: SiteQuality
SIO_000300: 1.19092e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.101e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.522e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000396630
ensembl transcript: ENST00000439780
gene symbol: UBE2F
hgvsc: ENST00000439780.1:c.354-12T>C
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 11372
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 183
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 319
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3079
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2200
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1100
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5699
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 819
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1834
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1833
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2466
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27296
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2137
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2175
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5269
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9341
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31130
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.769285208775655e-4
allele num: 11304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.610000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

MQRankSum
type: SiteQuality
SIO_000300: 1.91e0

FS
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 2.018986e6

QD
type: SiteQuality
SIO_000300: 1.069e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000258984
ensembl protein: ENSP00000457658
ensembl transcript: ENST00000449891
gene symbol: UBE2F-SCLY
hgvsc: ENST00000449891.1:c.*51-7A>T
variant of: http://identifiers.org/hgnc/48339

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000387299
ensembl transcript: ENST00000409633
gene symbol: UBE2F
hgvsc: ENST00000409633.1:c.412-7A>T
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000409749
ensembl transcript: ENST00000441728
gene symbol: UBE2F
hgvsc: ENST00000441728.2:c.*35-7A>T
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1106
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1526
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1625
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3091
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28217
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11538
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 320
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5733
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1840
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2466
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 183
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2081
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5294
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9332
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1459
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 403
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2676
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32437
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1841
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 175
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2127
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.192142171584259e-5
allele num: 64598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.778994719342852e-5
allele num: 10226
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.77e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.715e1

QD
type: SiteQuality
SIO_000300: 2.4e0

DP
type: SiteQuality
SIO_000300: 2.032313e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.264e0

FS
type: SiteQuality
SIO_000300: 7.1e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.284e0

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000258984
ensembl protein: ENSP00000456827
ensembl transcript: ENST00000449191
gene symbol: UBE2F-SCLY
hgvsc: ENST00000449191.1:c.283-3659C>T
variant of: http://identifiers.org/hgnc/48339

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000390813
ensembl transcript: ENST00000416292
gene symbol: UBE2F
hgvsc: ENST00000416292.1:c.316-3C>T
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000406113
ensembl transcript: ENST00000434655
gene symbol: UBE2F
hgvsc: ENST00000434655.1:c.412-3C>T
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 3094
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28820
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11706
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 185
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1285
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1831
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1225
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2463
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 319
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 819
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5754
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1100
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2138
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33219
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9339
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2699
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1579
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5345
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538745614574998e-5
allele num: 64988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.236e0

DP
type: SiteQuality
SIO_000300: 2.040607e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.835e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

QD
type: SiteQuality
SIO_000300: 7.09e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000184182
ensembl protein: ENSP00000409749
ensembl transcript: ENST00000441728
gene symbol: UBE2F
hgvsc: ENST00000441728.2:c.*41G>A
variant of: http://identifiers.org/hgnc/12480

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000184182
ensembl transcript: ENST00000482096
gene symbol: UBE2F
hgvsc: ENST00000482096.1:n.139G>A
variant of: http://identifiers.org/hgnc/12480

GenotypeDepth
all individuals: 2463
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 820
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 248
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5767
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 857
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 319
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12078
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 993
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1831
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1100
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3098
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29188
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 185
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34000
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5415
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9340
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1459
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2704
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2091
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52849107361213e-5
allele num: 65424
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.753501400560224e-5
allele num: 11424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.058e0

FS
type: SiteQuality
SIO_000300: 9.106999999999999e0

QD
type: SiteQuality
SIO_000300: 1.187e1

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.21e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.051312e6