X-65417764-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065417764
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065417764
    reference: chr 0
allele count: 1
allele frequency: 4.444049417829526e-5
allele num: 22502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+2693G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1875+28G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1722+28G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1713+28G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1584+28G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1722+28G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.912+28G>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

X-65417780-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065417780
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065417780
    reference: chr 0
allele count: 1
allele frequency: 5.151452709664125e-5
allele num: 19412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1713+44A>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+2709A>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1584+44A>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1722+44A>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.912+44A>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1875+44A>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1722+44A>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 14
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ

X-65417786-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065417786
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065417786
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 18416
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+2715C>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1584+50C>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1713+50C>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1722+50C>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1875+50C>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1722+50C>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.912+50C>G
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

X-65418671-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418671
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418671
    reference: chr 0
allele count: 1
allele frequency: 1.195471553754378e-5
allele num: 83649
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1723-49C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1723-49C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1585-49C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1876-49C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.913-49C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3600C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1714-49C>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

X-65418672-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418672
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418672
    reference: chr 0
allele count: 1
allele frequency: 1.194943001218842e-5
allele num: 83686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.913-48T>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1585-48T>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1723-48T>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1714-48T>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3601T>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1723-48T>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1876-48T>G
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9900
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1248
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genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

X-65418680-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418680
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418680
    reference: chr 0
allele count: 1
allele frequency: 1.193844537564318e-5
allele num: 83763
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1723-40T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3609T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1714-40T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1723-40T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1585-40T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1876-40T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.913-40T>C
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

X-65418682-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418682
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418682
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 83759
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1585-38G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1714-38G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1876-38G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1723-38G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3611G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1723-38G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.913-38G>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

X-65418691-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418691
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418691
    reference: chr 0
allele count: 1
allele frequency: 1.191426494942395e-5
allele num: 83933
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1585-29C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1723-29C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.913-29C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1714-29C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1876-29C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3620C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1723-29C>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

X-65418702-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418702
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418702
    reference: chr 0
allele count: 1
allele frequency: 1.183964386351259e-5
allele num: 84462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3631C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1585-18C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1714-18C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1723-18C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.913-18C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1723-18C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1876-18C>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9057
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 869
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3780
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1925
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genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 595
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3055
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2732
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 85
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genotype quality: GenotypeQuality
  all individuals: 230
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genotype quality: GenotypeQuality
  all individuals: 25379
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

X-65418707-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418707
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418707
    reference: chr 0
allele count: 1
allele frequency: 1.180135951661631e-5
allele num: 84736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3636A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1714-13A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1723-13A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1876-13A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1585-13A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1723-13A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.913-13A>G
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4762
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

X-65418713-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418713
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418713
    reference: chr 0
allele count: 1
allele frequency: 1.176733622809805e-5
allele num: 84981
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3642C>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1876-7C>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1714-7C>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1723-7C>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.913-7C>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1585-7C>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1723-7C>G
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: c.1876-7C>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

X-65418717-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418717
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418717
    reference: chr 0
allele count: 1
allele frequency: 1.171755993531907e-5
allele num: 85342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3646C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1585-3C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1723-3C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.913-3C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1714-3C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1876-3C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1723-3C>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4802
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25376
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1876-3C>A
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

X-65418717-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418717
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418717
    reference: chr 0
allele count: 2
allele frequency: 2.343511987063814e-5
allele num: 85342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3646C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1723-3C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1585-3C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1876-3C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.913-3C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1723-3C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1714-3C>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4802
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1876-3C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

X-65418731-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418731
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418730
    reference: chr 0
allele count: 1
allele frequency: 1.156992282861473e-5
allele num: 86431
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1599delA
  hgvsp: ENSP00000398078.1:p.Glu534AsnfsTer94
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3663delA
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1728delA
  hgvsp: ENSP00000343939.2:p.Glu577AsnfsTer94
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1737delA
  hgvsp: ENSP00000411687.2:p.Glu580AsnfsTer94
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1890delA
  hgvsp: ENSP00000430620.1:p.Glu631AsnfsTer94
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1737delA
  hgvsp: ENSP00000363859.3:p.Glu580AsnfsTer94
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.927delA
  hgvsp: ENSP00000337418.5:p.Glu310AsnfsTer94
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25377
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu631AsnfsTer94
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: TA
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

X-65418740-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418740
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418740
    reference: chr 0
allele count: 1
allele frequency: 1.151105636964304e-5
allele num: 86873
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1896C>A
  hgvsp: ENSP00000430620.1:p.Phe632Leu
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.933C>A
  hgvsp: ENSP00000337418.5:p.Phe311Leu
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1734C>A
  hgvsp: ENSP00000343939.2:p.Phe578Leu
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3669C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1743C>A
  hgvsp: ENSP00000363859.3:p.Phe581Leu
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1743C>A
  hgvsp: ENSP00000411687.2:p.Phe581Leu
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1605C>A
  hgvsp: ENSP00000398078.1:p.Phe535Leu
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe632Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

X-65418747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418747
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418747
    reference: chr 0
allele count: 2
allele frequency: 2.292578922029391e-5
allele num: 87238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1750C>T
  hgvsp: ENSP00000363859.3:p.Leu584Phe
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.940C>T
  hgvsp: ENSP00000337418.5:p.Leu314Phe
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3676C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1741C>T
  hgvsp: ENSP00000343939.2:p.Leu581Phe
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1750C>T
  hgvsp: ENSP00000411687.2:p.Leu584Phe
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1903C>T
  hgvsp: ENSP00000430620.1:p.Leu635Phe
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1612C>T
  hgvsp: ENSP00000398078.1:p.Leu538Phe
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4978
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25378
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu635Phe
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

X-65418774-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418774
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418774
    reference: chr 0
allele count: 1
allele frequency: 1.141083572960884e-5
allele num: 87636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1768A>G
  hgvsp: ENSP00000343939.2:p.Ser590Gly
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1777A>G
  hgvsp: ENSP00000363859.3:p.Ser593Gly
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1930A>G
  hgvsp: ENSP00000430620.1:p.Ser644Gly
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3703A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1639A>G
  hgvsp: ENSP00000398078.1:p.Ser547Gly
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1777A>G
  hgvsp: ENSP00000411687.2:p.Ser593Gly
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.967A>G
  hgvsp: ENSP00000337418.5:p.Ser323Gly
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser644Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

X-65418782-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418782
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418782
    reference: chr 0
allele count: 2
allele frequency: 2.281854691493246e-5
allele num: 87648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1776C>T
  hgvsp: ENST00000343002.2:c.1776C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1785C>T
  hgvsp: ENST00000441993.2:c.1785C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1647C>T
  hgvsp: ENST00000425114.1:c.1647C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1938C>T
  hgvsp: ENST00000519389.1:c.1938C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3711C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1785C>T
  hgvsp: ENST00000374727.3:c.1785C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.975C>T
  hgvsp: ENST00000336279.5:c.975C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3143
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr646Tyr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

X-65418789-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418789
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418789
    reference: chr 0
allele count: 2034
allele frequency: 2.320407953728738e-2
allele num: 87657
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3718G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1792G>A
  hgvsp: ENSP00000411687.2:p.Ala598Thr
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1654G>A
  hgvsp: ENSP00000398078.1:p.Ala552Thr
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1783G>A
  hgvsp: ENSP00000343939.2:p.Ala595Thr
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.982G>A
  hgvsp: ENSP00000337418.5:p.Ala328Thr
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1945G>A
  hgvsp: ENSP00000430620.1:p.Ala649Thr
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1792G>A
  hgvsp: ENSP00000363859.3:p.Ala598Thr
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11688
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 6.25e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 7165
  bin: 3.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 4.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 3.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 5.75e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 5.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 9.75e1
  variant carriers: 968
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 11692
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 7.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 6.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 8.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 25928
  bin: 9.75e1
  variant carriers: 1887
hgvs: p.Ala649Thr
num of homozygotes: 25
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD

X-65418790-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418790
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418790
    reference: chr 0
allele count: 1
allele frequency: 1.140654051032862e-5
allele num: 87669
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1793C>T
  hgvsp: ENSP00000363859.3:p.Ala598Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1946C>T
  hgvsp: ENSP00000430620.1:p.Ala649Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1655C>T
  hgvsp: ENSP00000398078.1:p.Ala552Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.983C>T
  hgvsp: ENSP00000337418.5:p.Ala328Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1784C>T
  hgvsp: ENSP00000343939.2:p.Ala595Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1793C>T
  hgvsp: ENSP00000411687.2:p.Ala598Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3719C>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5065
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25157
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala649Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

X-65418793-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418793
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418793
    reference: chr 0
allele count: 1
allele frequency: 1.140680073459797e-5
allele num: 87667
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1796A>G
  hgvsp: ENSP00000411687.2:p.Asn599Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1787A>G
  hgvsp: ENSP00000343939.2:p.Asn596Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1658A>G
  hgvsp: ENSP00000398078.1:p.Asn553Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1796A>G
  hgvsp: ENSP00000363859.3:p.Asn599Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3722A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.986A>G
  hgvsp: ENSP00000337418.5:p.Asn329Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1949A>G
  hgvsp: ENSP00000430620.1:p.Asn650Ser
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25155
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn650Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

X-65418797-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418797
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418797
    reference: chr 0
allele count: 1
allele frequency: 1.140641040264629e-5
allele num: 87670
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1791A>G
  hgvsp: ENST00000343002.2:c.1791A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1800A>G
  hgvsp: ENST00000441993.2:c.1800A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1662A>G
  hgvsp: ENST00000425114.1:c.1662A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.990A>G
  hgvsp: ENST00000336279.5:c.990A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1800A>G
  hgvsp: ENST00000374727.3:c.1800A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1953A>G
  hgvsp: ENST00000519389.1:c.1953A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3726A>G
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18986
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln651Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

X-65418804-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418804
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418804
    reference: chr 0
allele count: 1
allele frequency: 1.140654051032862e-5
allele num: 87669
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1807G>T
  hgvsp: ENSP00000411687.2:p.Ala603Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1669G>T
  hgvsp: ENSP00000398078.1:p.Ala557Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1798G>T
  hgvsp: ENSP00000343939.2:p.Ala600Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1807G>T
  hgvsp: ENSP00000363859.3:p.Ala603Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1960G>T
  hgvsp: ENSP00000430620.1:p.Ala654Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3733G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.997G>T
  hgvsp: ENSP00000337418.5:p.Ala333Ser
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25154
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5061
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala654Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

X-65418819-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418819
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418819
    reference: chr 0
allele count: 2
allele frequency: 2.281802624073018e-5
allele num: 87650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1684C>T
  hgvsp: ENSP00000398078.1:p.Arg562Ter
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1012C>T
  hgvsp: ENSP00000337418.5:p.Arg338Ter
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1975C>T
  hgvsp: ENSP00000430620.1:p.Arg659Ter
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1822C>T
  hgvsp: ENSP00000411687.2:p.Arg608Ter
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1813C>T
  hgvsp: ENSP00000343939.2:p.Arg605Ter
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3748C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1822C>T
  hgvsp: ENSP00000363859.3:p.Arg608Ter
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5055
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg659Ter
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

X-65418820-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418820
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418820
    reference: chr 0
allele count: 4
allele frequency: 4.563917666925288e-5
allele num: 87644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1814G>A
  hgvsp: ENSP00000343939.2:p.Arg605Gln
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1685G>A
  hgvsp: ENSP00000398078.1:p.Arg562Gln
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1013G>A
  hgvsp: ENSP00000337418.5:p.Arg338Gln
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1823G>A
  hgvsp: ENSP00000411687.2:p.Arg608Gln
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1976G>A
  hgvsp: ENSP00000430620.1:p.Arg659Gln
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1823G>A
  hgvsp: ENSP00000363859.3:p.Arg608Gln
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3749G>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 18930
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg659Gln
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

X-65418821-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418821
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418821
    reference: chr 0
allele count: 1
allele frequency: 1.140966398539563e-5
allele num: 87645
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3750A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1815A>G
  hgvsp: ENST00000343002.2:c.1815A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1824A>G
  hgvsp: ENST00000374727.3:c.1824A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1686A>G
  hgvsp: ENST00000425114.1:c.1686A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1824A>G
  hgvsp: ENST00000441993.2:c.1824A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.1977A>G
  hgvsp: ENST00000519389.1:c.1977A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1014A>G
  hgvsp: ENST00000336279.5:c.1014A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18935
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg659Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

X-65418848-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418848
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418848
    reference: chr 0
allele count: 1
allele frequency: 1.144505230388903e-5
allele num: 87374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1851C>T
  hgvsp: ENST00000441993.2:c.1851C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3777C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1713C>T
  hgvsp: ENST00000425114.1:c.1713C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1041C>T
  hgvsp: ENST00000336279.5:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1851C>T
  hgvsp: ENST00000374727.3:c.1851C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2004C>T
  hgvsp: ENST00000519389.1:c.2004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1842C>T
  hgvsp: ENST00000343002.2:c.1842C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4980
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25154
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe668Phe
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

X-65418853-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418853
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418853
    reference: chr 0
allele count: 1
allele frequency: 1.146039859266305e-5
allele num: 87257
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1718A>G
  hgvsp: ENSP00000398078.1:p.Asp573Gly
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1046A>G
  hgvsp: ENSP00000337418.5:p.Asp349Gly
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2009A>G
  hgvsp: ENSP00000430620.1:p.Asp670Gly
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1847A>G
  hgvsp: ENSP00000343939.2:p.Asp616Gly
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1856A>G
  hgvsp: ENSP00000363859.3:p.Asp619Gly
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1856A>G
  hgvsp: ENSP00000411687.2:p.Asp619Gly
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3782A>G
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp670Gly
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

X-65418861-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418861
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418861
    reference: chr 0
allele count: 2
allele frequency: 2.297213480048701e-5
allele num: 87062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1054C>T
  hgvsp: ENSP00000337418.5:p.Arg352Trp
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1855C>T
  hgvsp: ENSP00000343939.2:p.Arg619Trp
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1864C>T
  hgvsp: ENSP00000411687.2:p.Arg622Trp
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1726C>T
  hgvsp: ENSP00000398078.1:p.Arg576Trp
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2017C>T
  hgvsp: ENSP00000430620.1:p.Arg673Trp
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1864C>T
  hgvsp: ENSP00000363859.3:p.Arg622Trp
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3790C>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25150
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg673Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

X-65418862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418862
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418862
    reference: chr 0
allele count: 8
allele frequency: 9.193288899103655e-5
allele num: 87020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1856G>A
  hgvsp: ENSP00000343939.2:p.Arg619Gln
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1055G>A
  hgvsp: ENSP00000337418.5:p.Arg352Gln
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1865G>A
  hgvsp: ENSP00000363859.3:p.Arg622Gln
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2018G>A
  hgvsp: ENSP00000430620.1:p.Arg673Gln
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3791G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1865G>A
  hgvsp: ENSP00000411687.2:p.Arg622Gln
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1727G>A
  hgvsp: ENSP00000398078.1:p.Arg576Gln
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11847
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25151
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg673Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

X-65418869-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418869
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418869
    reference: chr 0
allele count: 2
allele frequency: 2.303882041239489e-5
allele num: 86810
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1872T>C
  hgvsp: ENST00000441993.2:c.1872T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1863T>C
  hgvsp: ENST00000343002.2:c.1863T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1062T>C
  hgvsp: ENST00000336279.5:c.1062T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3798T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1734T>C
  hgvsp: ENST00000425114.1:c.1734T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1872T>C
  hgvsp: ENST00000374727.3:c.1872T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2025T>C
  hgvsp: ENST00000519389.1:c.2025T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9699
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
hgvs: c.2025T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

X-65418883-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418883
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418883
    reference: chr 0
allele count: 2
allele frequency: 2.313743637204998e-5
allele num: 86440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1873+13C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3812C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1735+13C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1873+13C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1864+13C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2026+13C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1063+13C>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8829
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
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genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

X-65418893-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418893
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418893
    reference: chr 0
allele count: 2
allele frequency: 2.322637587244074e-5
allele num: 86109
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3822G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1873+23G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1063+23G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1735+23G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1864+23G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2026+23G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1873+23G>C
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 143
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14281
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25142
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

X-65418901-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418901
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418901
    reference: chr 0
allele count: 1
allele frequency: 1.164985204687901e-5
allele num: 85838
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2026+31T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1735+31T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1864+31T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1873+31T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3830T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1063+31T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1873+31T>C
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3018
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genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

X-65418905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418905
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418905
    reference: chr 0
allele count: 2
allele frequency: 2.334485012606219e-5
allele num: 85672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1873+35G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1063+35G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1873+35G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1864+35G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2026+35G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1735+35G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3834G>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2964
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP

X-65418908-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418908
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418907
    reference: chr 0
allele count: 1
allele frequency: 1.169522250160809e-5
allele num: 85505
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2026+41delC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3840delC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1873+41delC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1873+41delC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1735+41delC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1864+41delC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1063+41delC
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
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genotype depth: GenotypeDepth
  all individuals: 481
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6615
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
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genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2500
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11439
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genotype quality: GenotypeQuality
  all individuals: 546
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genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TC
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

X-65418913-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065418913
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065418913
    reference: chr 0
allele count: 2
allele frequency: 2.346343809758444e-5
allele num: 85239
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1873+43A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1864+43A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1510+3842A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1735+43A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1063+43A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1873+43A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2026+43A>G
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 368
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genotype depth: GenotypeDepth
  all individuals: 8869
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2451
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1248
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

X-65420334-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420334
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420334
    reference: chr 0
allele count: 1
allele frequency: 7.076139258420605e-5
allele num: 14132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1874-48G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2872G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2027-48G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1874-48G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.41G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1064-48G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1865-48G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1736-48G>A
  variant of: http://identifiers.org/hgnc/4866
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6423
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD

X-65420342-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420342
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420342
    reference: chr 0
allele count: 6
allele frequency: 4.194044456871243e-4
allele num: 14306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1064-40G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1736-40G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2864G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.49G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1865-40G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2027-40G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1874-40G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1874-40G>A
  variant of: http://identifiers.org/hgnc/4866
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32341
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15729
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4127
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9236
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

X-65420360-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420360
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420360
    reference: chr 0
allele count: 1
allele frequency: 6.191950464396285e-5
allele num: 16150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.67G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1874-22G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1064-22G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2846G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1874-22G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1736-22G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2027-22G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1865-22G>T
  variant of: http://identifiers.org/hgnc/4866
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22221
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26938
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18881
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2793
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24353
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

X-65420367-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420367
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420367
    reference: chr 0
allele count: 31
allele frequency: 1.736597389501989e-3
allele num: 17851
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2027-15G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1874-15G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1736-15G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1874-15G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.74G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2839G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1865-15G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1064-15G>T
  variant of: http://identifiers.org/hgnc/4866
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22755
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.25e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

X-65420367-GTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420367
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420365
    reference: chr 0
allele count: 2
allele frequency: 1.120385412581928e-4
allele num: 17851
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2835_1511-2834delTT
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1874-11_1874-10delTT
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1865-11_1865-10delTT
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.78_79delTT
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1064-11_1064-10delTT
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1736-11_1736-10delTT
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2027-11_2027-10delTT
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1874-11_1874-10delTT
  variant of: http://identifiers.org/hgnc/4866
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22755
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26065
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21245
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23093
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: GTT
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

X-65420373-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420373
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420373
    reference: chr 0
allele count: 35
allele frequency: 1.826817683595177e-3
allele num: 19159
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.80G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1874-9G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1874-9G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2833G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1736-9G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2027-9G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1064-9G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1865-9G>T
  variant of: http://identifiers.org/hgnc/4866
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 19449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 9.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18508
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum

X-65420377-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420377
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420377
    reference: chr 0
allele count: 441
allele frequency: 2.183708838821491e-2
allele num: 20195
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1064-5T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2829T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1874-5T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1874-5T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2027-5T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.84T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1736-5T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1865-5T>C
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 9.75e1
  variant carriers: 679
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 2.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 9.75e1
  variant carriers: 514
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 27634
  bin: 2.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 6.25e1
  variant carriers: 10
hgvs: c.2027-5T>C
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

X-65420377-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420377
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420378
    reference: chr 0
allele count: 7
allele frequency: 3.466204506065858e-4
allele num: 20195
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.86dupC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1874-3dupC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1874-3dupC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1736-3dupC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1064-3dupC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2027-3dupC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1865-3dupC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2827dupC
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 17420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16694
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
hgvs: c.2027-3dupC
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

X-65420377-T-TTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420377
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420379
    reference: chr 0
allele count: 10
allele frequency: 4.951720722951226e-4
allele num: 20195
alternate allele: TTC
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1736-5_1736-4insTC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1064-5_1064-4insTC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.84_85insTC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1874-5_1874-4insTC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1874-5_1874-4insTC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1865-5_1865-4insTC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2027-5_2027-4insTC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2829_1511-2828insTC
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 9.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 1.25e1
  variant carriers: 2
hgvs: c.2027-5_2027-4insTC
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

X-65420377-T-TTTTGTTTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420377
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420385
    reference: chr 0
allele count: 1
allele frequency: 4.951720722951226e-5
allele num: 20195
alternate allele: TTTTGTTTC
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1865-5_1865-4insTTTGTTTC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1736-5_1736-4insTTTGTTTC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1874-5_1874-4insTTTGTTTC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1874-5_1874-4insTTTGTTTC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.84_85insTTTGTTTC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1064-5_1064-4insTTTGTTTC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2027-5_2027-4insTTTGTTTC
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2027-5_2027-4insTTTGTTTC
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

X-65420407-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420407
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420407
    reference: chr 0
allele count: 85
allele frequency: 2.005426448035862e-3
allele num: 42385
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1089C>T
  hgvsp: ENST00000336279.5:c.1089C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1761C>T
  hgvsp: ENST00000425114.1:c.1761C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1899C>T
  hgvsp: ENST00000441993.2:c.1899C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1890C>T
  hgvsp: ENST00000343002.2:c.1890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2052C>T
  hgvsp: ENST00000519389.1:c.2052C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2799C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.114C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1899C>T
  hgvsp: ENST00000374727.3:c.1899C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 1.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 1.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30601
  bin: 7.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13509
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 5.25e1
  variant carriers: 4
hgvs: p.Asn684Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

X-65420413-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420413
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420413
    reference: chr 0
allele count: 1
allele frequency: 2.098768023170399e-5
allele num: 47647
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2058C>G
  hgvsp: ENST00000519389.1:c.2058C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1905C>G
  hgvsp: ENST00000374727.3:c.1905C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1767C>G
  hgvsp: ENST00000425114.1:c.1767C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.120C>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1095C>G
  hgvsp: ENST00000336279.5:c.1095C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1896C>G
  hgvsp: ENST00000343002.2:c.1896C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1905C>G
  hgvsp: ENST00000441993.2:c.1905C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2793C>G
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28039
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro686Pro
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

X-65420416-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420416
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420416
    reference: chr 0
allele count: 8
allele frequency: 1.600960576345807e-4
allele num: 49970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1770G>T
  hgvsp: ENSP00000398078.1:p.Arg590Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1899G>T
  hgvsp: ENSP00000343939.2:p.Arg633Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2061G>T
  hgvsp: ENSP00000430620.1:p.Arg687Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1908G>T
  hgvsp: ENSP00000363859.3:p.Arg636Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1908G>T
  hgvsp: ENSP00000411687.2:p.Arg636Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2790G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.123G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1098G>T
  hgvsp: ENSP00000337418.5:p.Arg366Ser
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27664
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Arg687Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

X-65420417-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420417
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420417
    reference: chr 0
allele count: 1
allele frequency: 1.973359644795264e-5
allele num: 50675
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1099C>A
  hgvsp: ENSP00000337418.5:p.Leu367Met
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1909C>A
  hgvsp: ENSP00000363859.3:p.Leu637Met
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2789C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1771C>A
  hgvsp: ENSP00000398078.1:p.Leu591Met
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1900C>A
  hgvsp: ENSP00000343939.2:p.Leu634Met
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1909C>A
  hgvsp: ENSP00000411687.2:p.Leu637Met
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2062C>A
  hgvsp: ENSP00000430620.1:p.Leu688Met
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.124C>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2945
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu688Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-65420425-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420425
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420425
    reference: chr 0
allele count: 1
allele frequency: 1.807925947353196e-5
allele num: 55312
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2070G>T
  hgvsp: ENSP00000430620.1:p.Met690Ile
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2781G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1779G>T
  hgvsp: ENSP00000398078.1:p.Met593Ile
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1917G>T
  hgvsp: ENSP00000411687.2:p.Met639Ile
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1908G>T
  hgvsp: ENSP00000343939.2:p.Met636Ile
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1107G>T
  hgvsp: ENSP00000337418.5:p.Met369Ile
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1917G>T
  hgvsp: ENSP00000363859.3:p.Met639Ile
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.132G>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18964
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3946
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18808
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met690Ile
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

X-65420433-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420433
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420433
    reference: chr 0
allele count: 1
allele frequency: 1.711478888907905e-5
allele num: 58429
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1115G>C
  hgvsp: ENSP00000337418.5:p.Gly372Ala
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2773G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1925G>C
  hgvsp: ENSP00000411687.2:p.Gly642Ala
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1925G>C
  hgvsp: ENSP00000363859.3:p.Gly642Ala
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1916G>C
  hgvsp: ENSP00000343939.2:p.Gly639Ala
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1787G>C
  hgvsp: ENSP00000398078.1:p.Gly596Ala
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2078G>C
  hgvsp: ENSP00000430620.1:p.Gly693Ala
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.140G>C
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19672
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22960
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly693Ala
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ

X-65420450-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420450
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420450
    reference: chr 0
allele count: 3
allele frequency: 4.598476371495578e-5
allele num: 65239
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1933C>A
  hgvsp: ENSP00000343939.2:p.His645Asn
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1132C>A
  hgvsp: ENSP00000337418.5:p.His378Asn
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1942C>A
  hgvsp: ENSP00000363859.3:p.His648Asn
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2095C>A
  hgvsp: ENSP00000430620.1:p.His699Asn
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.157C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1942C>A
  hgvsp: ENSP00000411687.2:p.His648Asn
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1804C>A
  hgvsp: ENSP00000398078.1:p.His602Asn
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2756C>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19283
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His699Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

X-65420452-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420452
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420452
    reference: chr 0
allele count: 1
allele frequency: 1.515358154899911e-5
allele num: 65991
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2097C>T
  hgvsp: ENST00000519389.1:c.2097C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1134C>T
  hgvsp: ENST00000336279.5:c.1134C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.159C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1944C>T
  hgvsp: ENST00000441993.2:c.1944C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1935C>T
  hgvsp: ENST00000343002.2:c.1935C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1806C>T
  hgvsp: ENST00000425114.1:c.1806C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1944C>T
  hgvsp: ENST00000374727.3:c.1944C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2754C>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His699His
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

X-65420459-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420459
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420459
    reference: chr 0
allele count: 1
allele frequency: 1.435791408224213e-5
allele num: 69648
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2104G>A
  hgvsp: ENSP00000430620.1:p.Gly702Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2747G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1141G>A
  hgvsp: ENSP00000337418.5:p.Gly381Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1951G>A
  hgvsp: ENSP00000363859.3:p.Gly651Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1813G>A
  hgvsp: ENSP00000398078.1:p.Gly605Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1951G>A
  hgvsp: ENSP00000411687.2:p.Gly651Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1942G>A
  hgvsp: ENSP00000343939.2:p.Gly648Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.166G>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16066
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16697
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly702Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

X-65420470-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420470
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420470
    reference: chr 0
allele count: 1
allele frequency: 1.318217769575534e-5
allele num: 75860
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2736A>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1824A>C
  hgvsp: ENST00000425114.1:c.1824A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1953A>C
  hgvsp: ENST00000343002.2:c.1953A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2115A>C
  hgvsp: ENST00000519389.1:c.2115A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.177A>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1962A>C
  hgvsp: ENST00000374727.3:c.1962A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1962A>C
  hgvsp: ENST00000441993.2:c.1962A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1152A>C
  hgvsp: ENST00000336279.5:c.1152A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr705Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

X-65420474-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420474
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420474
    reference: chr 0
allele count: 2
allele frequency: 2.585883661094087e-5
allele num: 77343
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1828A>G
  hgvsp: ENSP00000398078.1:p.Thr610Ala
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2119A>G
  hgvsp: ENSP00000430620.1:p.Thr707Ala
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.181A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1966A>G
  hgvsp: ENSP00000411687.2:p.Thr656Ala
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1957A>G
  hgvsp: ENSP00000343939.2:p.Thr653Ala
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1966A>G
  hgvsp: ENSP00000363859.3:p.Thr656Ala
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1156A>G
  hgvsp: ENSP00000337418.5:p.Thr386Ala
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2732A>G
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr707Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

X-65420482-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420482
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420482
    reference: chr 0
allele count: 1
allele frequency: 1.25281884239539e-5
allele num: 79820
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2127G>T
  hgvsp: ENST00000519389.1:c.2127G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1836G>T
  hgvsp: ENST00000425114.1:c.1836G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2724G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1974G>T
  hgvsp: ENST00000374727.3:c.1974G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1965G>T
  hgvsp: ENST00000343002.2:c.1965G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1974G>T
  hgvsp: ENST00000441993.2:c.1974G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.189G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1164G>T
  hgvsp: ENST00000336279.5:c.1164G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34476
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38587
  bin: 6.25e1
  variant carriers: 1
hgvs: p.Val709Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

X-65420491-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420491
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420491
    reference: chr 0
allele count: 34
allele frequency: 4.151759002600955e-4
allele num: 81893
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2136C>T
  hgvsp: ENST00000519389.1:c.2136C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1983C>T
  hgvsp: ENST00000374727.3:c.1983C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1983C>T
  hgvsp: ENST00000441993.2:c.1983C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.198C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1845C>T
  hgvsp: ENST00000425114.1:c.1845C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1974C>T
  hgvsp: ENST00000343002.2:c.1974C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2715C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1173C>T
  hgvsp: ENST00000336279.5:c.1173C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8994
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36475
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val712Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

X-65420492-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420492
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420492
    reference: chr 0
allele count: 2
allele frequency: 2.435341678437485e-5
allele num: 82124
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.1984A>G
  hgvsp: ENSP00000363859.3:p.Met662Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1846A>G
  hgvsp: ENSP00000398078.1:p.Met616Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2714A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1174A>G
  hgvsp: ENSP00000337418.5:p.Met392Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.1975A>G
  hgvsp: ENSP00000343939.2:p.Met659Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2137A>G
  hgvsp: ENSP00000430620.1:p.Met713Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.1984A>G
  hgvsp: ENSP00000411687.2:p.Met662Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.199A>G
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3958
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met713Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

X-65420521-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420521
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420521
    reference: chr 0
allele count: 1
allele frequency: 1.184820085070082e-5
allele num: 84401
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.2013G>A
  hgvsp: ENST00000441993.2:c.2013G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1875G>A
  hgvsp: ENST00000425114.1:c.1875G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2685G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.2013G>A
  hgvsp: ENST00000374727.3:c.2013G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2166G>A
  hgvsp: ENST00000519389.1:c.2166G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1203G>A
  hgvsp: ENST00000336279.5:c.1203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.2004G>A
  hgvsp: ENST00000343002.2:c.2004G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.228G>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37401
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln722Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

X-65420529-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420529
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420529
    reference: chr 0
allele count: 1
allele frequency: 1.185747317246695e-5
allele num: 84335
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1883G>A
  hgvsp: ENSP00000398078.1:p.Arg628Lys
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1211G>A
  hgvsp: ENSP00000337418.5:p.Arg404Lys
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.2021G>A
  hgvsp: ENSP00000363859.3:p.Arg674Lys
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.236G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.2012G>A
  hgvsp: ENSP00000343939.2:p.Arg671Lys
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.2021G>A
  hgvsp: ENSP00000411687.2:p.Arg674Lys
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2677G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2174G>A
  hgvsp: ENSP00000430620.1:p.Arg725Lys
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg725Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

X-65420533-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420533
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420533
    reference: chr 0
allele count: 1
allele frequency: 1.185662963446011e-5
allele num: 84341
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1887G>C
  hgvsp: ENSP00000398078.1:p.Lys629Asn
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.2025G>C
  hgvsp: ENSP00000411687.2:p.Lys675Asn
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1215G>C
  hgvsp: ENSP00000337418.5:p.Lys405Asn
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2178G>C
  hgvsp: ENSP00000430620.1:p.Lys726Asn
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.2025G>C
  hgvsp: ENSP00000363859.3:p.Lys675Asn
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.2016G>C
  hgvsp: ENSP00000343939.2:p.Lys672Asn
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2673G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.240G>C
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys726Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD

X-65420571-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420571
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420571
    reference: chr 0
allele count: 1
allele frequency: 1.205952581944478e-5
allele num: 82922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.2063C>T
  hgvsp: ENSP00000411687.2:p.Ala688Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2635C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.2054C>T
  hgvsp: ENSP00000343939.2:p.Ala685Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2216C>T
  hgvsp: ENSP00000430620.1:p.Ala739Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1925C>T
  hgvsp: ENSP00000398078.1:p.Ala642Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.278C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.2063C>T
  hgvsp: ENSP00000363859.3:p.Ala688Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1253C>T
  hgvsp: ENSP00000337418.5:p.Ala418Val
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala739Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

X-65420581-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420581
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420581
    reference: chr 0
allele count: 4
allele frequency: 4.837929366231253e-5
allele num: 82680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1935G>A
  hgvsp: ENST00000425114.1:c.1935G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.288G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2625G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1263G>A
  hgvsp: ENST00000336279.5:c.1263G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.2073G>A
  hgvsp: ENST00000374727.3:c.2073G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.2073G>A
  hgvsp: ENST00000441993.2:c.2073G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.2064G>A
  hgvsp: ENST00000343002.2:c.2064G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2226G>A
  hgvsp: ENST00000519389.1:c.2226G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7767
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24011
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11033
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Gln742Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

X-65420608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420608
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420608
    reference: chr 0
allele count: 3
allele frequency: 3.792667509481669e-5
allele num: 79100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.2077+14C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.301+14C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1948+14C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.2086+14C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.2086+14C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2598C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2239+14C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1276+14C>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16700
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10841
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11957
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6276
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5245
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum

X-65420609-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420609
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420609
    reference: chr 0
allele count: 77869
allele frequency: 9.652902601990851e-1
allele num: 80669
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.2077+15A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2597A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.301+15A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1276+15A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2239+15A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.2086+15A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1948+15A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.2086+15A>G
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 333
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.75e1
  variant carriers: 506
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 3.25e1
  variant carriers: 4700
genotype depth: GenotypeDepth
  all individuals: 11465
  bin: 1.75e1
  variant carriers: 11315
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 4.25e1
  variant carriers: 1716
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 7.5e0
  variant carriers: 5374
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 2.75e1
  variant carriers: 6442
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 248
genotype depth: GenotypeDepth
  all individuals: 12704
  bin: 1.25e1
  variant carriers: 12193
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 2.5e0
  variant carriers: 367
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 3.75e1
  variant carriers: 2833
genotype depth: GenotypeDepth
  all individuals: 8375
  bin: 2.25e1
  variant carriers: 8272
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 709
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 261
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 448
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 220
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 308
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 9.75e1
  variant carriers: 1731
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 1034
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 205
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 8.25e1
  variant carriers: 2289
genotype quality: GenotypeQuality
  all individuals: 4770
  bin: 4.75e1
  variant carriers: 4760
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 2.25e1
  variant carriers: 2484
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.5e0
  variant carriers: 212
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 1.75e1
  variant carriers: 1261
genotype quality: GenotypeQuality
  all individuals: 4490
  bin: 3.25e1
  variant carriers: 4413
genotype quality: GenotypeQuality
  all individuals: 14251
  bin: 9.75e1
  variant carriers: 14218
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 9.25e1
  variant carriers: 1893
num of homozygotes: 24718
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

X-65420624-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420624
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420624
    reference: chr 0
allele count: 1
allele frequency: 1.553711817532084e-5
allele num: 64362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.2086+30C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2239+30C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1948+30C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1276+30C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.2077+30C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.2086+30C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.301+30C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2582C>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7531
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20672
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4493
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5781
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

X-65420638-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420638
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420638
    reference: chr 0
allele count: 20
allele frequency: 3.261738180276269e-4
allele num: 61317
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1948+44G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.301+44G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.2086+44G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.2086+44G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.2077+44G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1276+44G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2568G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2239+44G>C
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8982
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 16385
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18358
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5492
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4854
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6163
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17307
  bin: 2.25e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

X-65420642-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420642
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420642
    reference: chr 0
allele count: 21
allele frequency: 3.475382705833678e-4
allele num: 60425
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1948+48C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2564C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.2086+48C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2239+48C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.2086+48C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.301+48C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.2077+48C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1276+48C>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18900
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15982
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8809
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15741
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4874
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

X-65420643-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065420643
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065420643
    reference: chr 0
allele count: 1
allele frequency: 1.655683963045134e-5
allele num: 60398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.1276+49A>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl transcript: ENST00000471121
  gene symbol: HEPH
  hgvsc: ENST00000471121.1:n.301+49A>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.2086+49A>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.2086+49A>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.2077+49A>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.1948+49A>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.1511-2563A>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.2239+49A>C
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8773
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 3142
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10440
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 407
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1113
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.541984732824427e-4
allele num: 1048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4889
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.623e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.019e0

QD
type: SiteQuality
SIO_000300: 5.82e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

DP
type: SiteQuality
SIO_000300: 4.99395e5

FS
type: SiteQuality
SIO_000300: 1.978e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.48e-2

MQ
type: SiteQuality
SIO_000300: 5.941e1

GenotypeQuality
all individuals: 5782
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3045
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4802
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1262
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2532
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 576
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2937
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 173
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.130833155763904e-4
allele num: 4693
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9777
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.54547e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.99e-2

QD
type: SiteQuality
SIO_000300: 2.954e1

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 8568
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4887
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 317
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4497
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 287
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2859
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9237
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.50735e5

VQSLOD
type: SiteQuality
SIO_000300: -2.906e-1

QD
type: SiteQuality
SIO_000300: 2.174e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-2

GenotypeQuality
all individuals: 521
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2561
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3079
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10587
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4513
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.396453009356235e-4
allele num: 7161
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9255
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 587
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.09e-1

QD
type: SiteQuality
SIO_000300: 1.538e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.14e-1

DP
type: SiteQuality
SIO_000300: 2.533352e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.129e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.617e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 10872
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25368
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3079
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2014
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4557
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8451
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4519
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47092
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.39217597104274e-4
allele num: 7183
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9249
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 2.534634e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.23e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.883e0

FS
type: SiteQuality
SIO_000300: 1.349e0

MQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.901e0

VQSLOD
type: SiteQuality
SIO_000300: -5.672e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

GenotypeQuality
all individuals: 784
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2575
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3065
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2274
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12717
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25374
bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.12228612661559e-5
allele num: 47119
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8457
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6605
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 589
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9255
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.692e1

QD
type: SiteQuality
SIO_000300: 2.705e1

VQSLOD
type: SiteQuality
SIO_000300: -7.265e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

DP
type: SiteQuality
SIO_000300: 2.545245e6

GenotypeQuality
all individuals: 152
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13049
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1997
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25373
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 549
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9255
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47113
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8457
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 589
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4519
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.474e0

QD
type: SiteQuality
SIO_000300: 1.002e1

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

MQ
type: SiteQuality
SIO_000300: 5.811e1

VQSLOD
type: SiteQuality
SIO_000300: -2.531e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 2.548024e6

GenotypeQuality
all individuals: 2583
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 463
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25375
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.362397820163488e-4
allele num: 7340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 591
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.951e1

VQSLOD
type: SiteQuality
SIO_000300: -2.035e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

DP
type: SiteQuality
SIO_000300: 2.559742e6

MQ
type: SiteQuality
SIO_000300: 5.914e1

GenotypeQuality
all individuals: 14838
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4749
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2600
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3098
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 599
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.180637544273908e-4
allele num: 8470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6619
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9264
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

FS
type: SiteQuality
SIO_000300: 2.931e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-2

DP
type: SiteQuality
SIO_000300: 2.574021e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.04e-1

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2117
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2601
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25379
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2670
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.111308166539988e-5
allele num: 47364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8475
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.37e0

QD
type: SiteQuality
SIO_000300: 1.537e1

MQRankSum
type: SiteQuality
SIO_000300: -7.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

DP
type: SiteQuality
SIO_000300: 2.579332e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.633e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.82e-1

GenotypeQuality
all individuals: 3108
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15487
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25378
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47401
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.238543472875898e-4
allele num: 8074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 605
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6624
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.09e0

QD
type: SiteQuality
SIO_000300: 1.941e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.163e0

DP
type: SiteQuality
SIO_000300: 2.586057e6

FS
type: SiteQuality
SIO_000300: 1.4959e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 2173
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9273
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8497
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 611
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.509433962264151e-4
allele num: 6625
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47479
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4525
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.446e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

FS
type: SiteQuality
SIO_000300: 6.657e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.370000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.816e1

MQ
type: SiteQuality
SIO_000300: 5.928e1

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

DP
type: SiteQuality
SIO_000300: 2.591889e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3118
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 57
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 102
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variant carriers: 0

GenotypeQuality
all individuals: 25376
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8497
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4525
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 611
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.212388634975463e-5
allele num: 47479
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9273
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6625
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.446e0

QD
type: SiteQuality
SIO_000300: 1.816e1

FS
type: SiteQuality
SIO_000300: 6.657e0

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

DP
type: SiteQuality
SIO_000300: 2.591889e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.370000000000001e-2

GenotypeQuality
all individuals: 194
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17088
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 134
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variant carriers: 0

GenotypeQuality
all individuals: 2607
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2119
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variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 625
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9287
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.175502527330434e-4
allele num: 8507
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4525
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6633
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47688
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

FS
type: SiteQuality
SIO_000300: 7.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.42e-1

DP
type: SiteQuality
SIO_000300: 2.610925e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.307e1

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

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 4951
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 25378
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3123
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variant carriers: 0

GenotypeQuality
all individuals: 2607
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variant carriers: 0

GenotypeQuality
all individuals: 17660
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.09279450850721e-5
allele num: 47783
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 2.620269e6

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-2

QD
type: SiteQuality
SIO_000300: 3.271e1

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 51
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.046873400880156e-4
allele num: 9771
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47873
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9291
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.61e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.709e0

VQSLOD
type: SiteQuality
SIO_000300: -1.631e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.971e1

MQ
type: SiteQuality
SIO_000300: 5.986e1

DP
type: SiteQuality
SIO_000300: 2.627803e6

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

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5038
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variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 18705
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variant carriers: 0

GenotypeQuality
all individuals: 2117
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variant carriers: 0

GenotypeQuality
all individuals: 2112
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 25378
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 1.075615790039798e-4
allele num: 9297
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47951
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 631
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.149e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 9.350000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.677e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.374e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e0

DP
type: SiteQuality
SIO_000300: 2.636175e6

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 103
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GenotypeQuality
all individuals: 2615
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variant carriers: 0

GenotypeQuality
all individuals: 18739
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variant carriers: 0

GenotypeQuality
all individuals: 25377
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 1270
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.983339944466482e-4
allele num: 10084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 631
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9299
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.84e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.914e0

FS
type: SiteQuality
SIO_000300: 1.176e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.64e-1

QD
type: SiteQuality
SIO_000300: 1.863e1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e-1

DP
type: SiteQuality
SIO_000300: 2.636847e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 92
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 18574
bin: 6.25e1
variant carriers: 8

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

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 34
bin: 5.25e1
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GenotypeQuality
all individuals: 1240
bin: 8.75e1
variant carriers: 18

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 7

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 7

GenotypeQuality
all individuals: 3065
bin: 7.75e1
variant carriers: 10

GenotypeQuality
all individuals: 4943
bin: 6.75e1
variant carriers: 12

GenotypeQuality
all individuals: 2048
bin: 9.25e1
variant carriers: 17

African
type: Population
allele count: 35
allele frequency: 4.109910756223579e-3
allele num: 8516
num of homozygotes: 0

Latino
type: Population
allele count: 195
allele frequency: 2.096774193548387e-2
allele num: 9300
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 1441
allele frequency: 3.00496308962756e-2
allele num: 47954
num of homozygotes: 15

Other
type: Population
allele count: 23
allele frequency: 3.639240506329114e-2
allele num: 632
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 311
allele frequency: 6.87292817679558e-2
allele num: 4525
num of homozygotes: 6

South Asian
type: Population
allele count: 29
allele frequency: 2.87299385773727e-3
allele num: 10094
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.496e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.923e1

DP
type: SiteQuality
SIO_000300: 2.734535e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.74e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.83e1

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

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.085027418110548e-5
allele num: 47961
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
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MQ
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FS
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QD
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 5.02e-2

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 2.08494047494944e-5
allele num: 47963
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
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FS
type: SiteQuality
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VQSLOD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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MQRankSum
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SIO_000300: 4.0e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.084810073802277e-5
allele num: 47966
num of homozygotes: 0

Other
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num of homozygotes: 0

MQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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FS
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.084810073802277e-5
allele num: 47966
num of homozygotes: 0

ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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SIO_000300: 2.0e0

BaseQRankSum
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SIO_000300: -2.809e0

ReadPosRankSum
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SIO_000300: 2.07e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.573e1

DP
type: SiteQuality
SIO_000300: 2.635553e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

South Asian
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allele frequency: 9.929500546122529e-5
allele num: 10071
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.084897006087899e-5
allele num: 47964
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9302
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.797e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.54e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.76e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

DP
type: SiteQuality
SIO_000300: 2.634937e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.568e-1

MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.075384449940854e-4
allele num: 9299
num of homozygotes: 0

East Asian
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allele frequency: 1.506931886678722e-4
allele num: 6636
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.085027418110548e-5
allele num: 47961
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 9.929500546122529e-5
allele num: 10071
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.21e-1

MQ
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SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 1.802e0

BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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QD
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SIO_000300: 1.605e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

South Asian
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African
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allele frequency: 0.0e0
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East Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.085027418110548e-5
allele num: 47961
num of homozygotes: 0

MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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QD
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MQ
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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European (Finnish)
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MQ
type: SiteQuality
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ReadPosRankSum
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QD
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VQSLOD
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DP
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InbreedingCoeff
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Other
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East Asian
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European (Non-Finnish)
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allele num: 47863
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Latino
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European (Finnish)
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InbreedingCoeff
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VQSLOD
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FS
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QD
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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Other
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South Asian
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East Asian
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DP
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SIO_000300: 2.616937e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

VQSLOD
type: SiteQuality
SIO_000300: -4.381e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.28e-2

FS
type: SiteQuality
SIO_000300: 8.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-1

QD
type: SiteQuality
SIO_000300: 2.763e1

MQ
type: SiteQuality
SIO_000300: 5.905e1

GenotypeQuality
all individuals: 4903
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2078
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3125
bin: 7.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 627
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47797
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 8.300477277443454e-4
allele num: 9638
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.615195e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-2

FS
type: SiteQuality
SIO_000300: 6.94e0

VQSLOD
type: SiteQuality
SIO_000300: 7.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.599e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 1.81e1

GenotypeQuality
all individuals: 284
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4858
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variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.094109270621741e-5
allele num: 47753
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9289
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8499
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 625
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6629
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.053851828432922e-4
allele num: 9489
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.474e0

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.952e-1

QD
type: SiteQuality
SIO_000300: 1.776e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.175e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.91e-2

DP
type: SiteQuality
SIO_000300: 2.60705e6

GenotypeQuality
all individuals: 15647
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2107
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9241
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.612903225806452e-3
allele num: 620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4525
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.098019469620678e-5
allele num: 47664
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.46e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-3

FS
type: SiteQuality
SIO_000300: 7.608e0

VQSLOD
type: SiteQuality
SIO_000300: -2.36e-1

QD
type: SiteQuality
SIO_000300: 1.675e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.283e0

DP
type: SiteQuality
SIO_000300: 2.592207e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
all individuals: 135
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
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GenotypeQuality
all individuals: 803
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1263
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variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.361275088547816e-4
allele num: 8470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47587
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9017
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6618
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.367e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

FS
type: SiteQuality
SIO_000300: 2.616e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.276e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 2.575325e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

GenotypeQuality
all individuals: 1978
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2907
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
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GenotypeQuality
all individuals: 228
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variant carriers: 0

GenotypeQuality
all individuals: 314
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GenotypeQuality
all individuals: 774
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variant carriers: 0

GenotypeQuality
all individuals: 2098
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variant carriers: 0

GenotypeQuality
all individuals: 4496
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variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6611
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4525
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 617
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8465
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47501
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.12956060092624e-4
allele num: 8853
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.561065e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 5.372e0

MQRankSum
type: SiteQuality
SIO_000300: -1.479e0

MQ
type: SiteQuality
SIO_000300: 5.9e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.371e0

QD
type: SiteQuality
SIO_000300: 1.492e1

GenotypeQuality
all individuals: 12362
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1252
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 1058
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
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variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2558
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8748
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9259
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.213897433736463e-5
allele num: 47462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8451
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6611
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4525
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

QD
type: SiteQuality
SIO_000300: 1.565e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 2.908e0

DP
type: SiteQuality
SIO_000300: 2.551299e6

GenotypeQuality
all individuals: 325
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
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GenotypeQuality
all individuals: 59
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GenotypeQuality
all individuals: 667
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25141
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1249
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variant carriers: 0

GenotypeQuality
all individuals: 2954
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8441
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9255
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8639
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.108725907806503e-5
allele num: 47422
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

QD
type: SiteQuality
SIO_000300: 1.316e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.03e1

DP
type: SiteQuality
SIO_000300: 2.54197e6

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.96e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1628
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9251
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.223954043380008e-5
allele num: 47349
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6607
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8431
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8465
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.528955e6

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

QD
type: SiteQuality
SIO_000300: 2.565e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.97e-1

GenotypeQuality
all individuals: 992
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 400
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.508771929824561e-4
allele num: 2850
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 743
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8295
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.02e0

DP
type: SiteQuality
SIO_000300: 7.58818e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.72e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

FS
type: SiteQuality
SIO_000300: 3.244e0

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeQuality
all individuals: 5828
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3975
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 161
bin: 8.25e1
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GenotypeQuality
all individuals: 1018
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25048
bin: 7.5e0
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GenotypeQuality
all individuals: 107
bin: 7.25e1
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GenotypeQuality
all individuals: 160
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
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GenotypeQuality
all individuals: 395
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4162
bin: 9.75e1
variant carriers: 7

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1393
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 7.178750897343862e-4
allele num: 8358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2863
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.69418e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.347e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.11e-2

QD
type: SiteQuality
SIO_000300: 1.623e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.8e0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.082133968185261e-4
allele num: 9241
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3063
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 137
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 953
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1722
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.54e-2

DP
type: SiteQuality
SIO_000300: 8.28281e5

BaseQRankSum
type: SiteQuality
SIO_000300: -8.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 1.334e1

VQSLOD
type: SiteQuality
SIO_000300: -1.239e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

FS
type: SiteQuality
SIO_000300: 5.286e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

GenotypeQuality
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variant carriers: 37

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1086
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.285347043701799e-3
allele num: 10114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 833
num of homozygotes: 0

African
type: Population
allele count: 18
allele frequency: 5.574481263549086e-3
allele num: 3229
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 437
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.067e0

MQRankSum
type: SiteQuality
SIO_000300: -3.46e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 8.67521e5

VQSLOD
type: SiteQuality
SIO_000300: -5.065e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.777e0

FS
type: SiteQuality
SIO_000300: 4.7081e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.16e-2

QD
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 305
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GenotypeQuality
all individuals: 112
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 833
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 9.960159362549801e-4
allele num: 2008
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3229
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 437
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.067e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.16e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.46e-1

QD
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.777e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 4.7081e1

DP
type: SiteQuality
SIO_000300: 8.67521e5

VQSLOD
type: SiteQuality
SIO_000300: -5.065e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 62

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 119
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variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1201
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 5.067064083457526e-3
allele num: 3355
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 1.670843776106934e-3
allele num: 10773
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.619e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.611e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.66e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.09e1

DP
type: SiteQuality
SIO_000300: 9.0454e5

MQ
type: SiteQuality
SIO_000300: 5.849e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.92e0

QD
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 9.7586e1

MQRankSum
type: SiteQuality
SIO_000300: -9.04e-1

GenotypeQuality
all individuals: 1888
bin: 1.75e1
variant carriers: 10

GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 14

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1393
bin: 2.75e1
variant carriers: 4

Latino
type: Population
allele count: 2
allele frequency: 1.838235294117647e-3
allele num: 1088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 1.829268292682927e-2
allele num: 164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2433
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 2.207505518763797e-3
allele num: 1359
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 237
allele frequency: 2.114372379338032e-2
allele num: 11209
num of homozygotes: 0

African
type: Population
allele count: 196
allele frequency: 5.854241338112306e-2
allele num: 3348
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.44749e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.64e0

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.883e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

FS
type: SiteQuality
SIO_000300: 1.69544e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.411e0

VQSLOD
type: SiteQuality
SIO_000300: -2.583e1

QD
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.85e-2

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1088
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 1.493428912783752e-3
allele num: 3348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.784280488892854e-4
allele num: 11209
num of homozygotes: 0

South Asian
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allele count: 0
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allele num: 2433
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.85e-2

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.69544e2

MQ
type: SiteQuality
SIO_000300: 5.924e1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -7.883e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 4.460701222232135e-4
allele num: 11209
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1359
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 594
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African
type: Population
allele count: 5
allele frequency: 1.493428912783752e-3
allele num: 3348
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 164
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2433
num of homozygotes: 0

Latino
type: Population
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.924e1

InbreedingCoeff
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1359
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 11209
num of homozygotes: 0

South Asian
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African
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allele count: 1
allele frequency: 2.986857825567503e-4
allele num: 3348
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 594
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 63

GenotypeQuality
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bin: 3.75e1
variant carriers: 4

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 80
allele frequency: 3.545313538666076e-3
allele num: 22565
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 7.612281146917026e-4
allele num: 3941
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.830683777054204e-4
allele num: 5221
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1621
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 311
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

QD
type: SiteQuality
SIO_000300: 1.593e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

DP
type: SiteQuality
SIO_000300: 1.076833e6

FS
type: SiteQuality
SIO_000300: 1.802e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.705e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.88e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4667
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.957888070925354e-5
allele num: 25266
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1911
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 349
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5882
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

VQSLOD
type: SiteQuality
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MQRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 2.199e0

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.225e0

DP
type: SiteQuality
SIO_000300: 1.132242e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 26503
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 3900
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6151
num of homozygotes: 0

Latino
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allele count: 8
allele frequency: 1.593625498007968e-3
allele num: 5020
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 361
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2007
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -1.942e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.538e0

DP
type: SiteQuality
SIO_000300: 1.15689e6

QD
type: SiteQuality
SIO_000300: 1.465e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-1

MQRankSum
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SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3953
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5129
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6077
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.715538381511481e-5
allele num: 26914
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.165501e6

VQSLOD
type: SiteQuality
SIO_000300: 7.45e-1

FS
type: SiteQuality
SIO_000300: 2.187e0

MQRankSum
type: SiteQuality
SIO_000300: 5.75e-1

QD
type: SiteQuality
SIO_000300: 1.015e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.615e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.068e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2163
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6429
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5781
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.39570104248022e-5
allele num: 29449
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2297
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 399
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6619
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.213986e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.541e0

QD
type: SiteQuality
SIO_000300: 1.549e1

FS
type: SiteQuality
SIO_000300: 5.51e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.155e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: 4.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.460067163089502e-4
allele num: 6849
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2467
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31175
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6214
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7200
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2844
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.917913310318374e-4
allele num: 5214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.712490360172517e-5
allele num: 35011
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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MQ
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.2736e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
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num of homozygotes: 0

African
type: Population
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allele frequency: 1.375705048837529e-4
allele num: 7269
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 37618
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Latino
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num of homozygotes: 0

African
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South Asian
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allele frequency: 1.302083333333333e-4
allele num: 7680
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FS
type: SiteQuality
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DP
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MQ
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MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 296
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41299
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8375
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 533
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.65809981760902e-4
allele num: 6031
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8203
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3543
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7876
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

QD
type: SiteQuality
SIO_000300: 9.09e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.502021e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.186e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 199
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42211
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8301
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3655
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6141
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.34439104442621e-4
allele num: 8531
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.801e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

DP
type: SiteQuality
SIO_000300: 1.527645e6

MQRankSum
type: SiteQuality
SIO_000300: 8.43e-1

QD
type: SiteQuality
SIO_000300: 2.27e1

FS
type: SiteQuality
SIO_000300: 6.057e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

GenotypeQuality
all individuals: 880
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8758
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3835
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43713
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.16767865483419e-4
allele num: 8564
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.584e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.105e0

DP
type: SiteQuality
SIO_000300: 1.573613e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.052e0

QD
type: SiteQuality
SIO_000300: 1.354e1

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 32

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 32
allele frequency: 3.898160555487879e-3
allele num: 8209
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4024
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.121201928467317e-4
allele num: 8919
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6397
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.742160278745645e-3
allele num: 574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44990
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8780
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.256e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.130000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

QD
type: SiteQuality
SIO_000300: 1.44e1

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

DP
type: SiteQuality
SIO_000300: 1.612513e6

GenotypeQuality
all individuals: 209
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41441
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3732
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variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
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GenotypeQuality
all individuals: 348
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variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.216017373576209e-5
allele num: 45126
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.119319453772107e-4
allele num: 8934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

FS
type: SiteQuality
SIO_000300: 1.687e0

VQSLOD
type: SiteQuality
SIO_000300: 5.44e-1

QD
type: SiteQuality
SIO_000300: 1.136e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 1.614247e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43231
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3864
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 485
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variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4162
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 589
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9070
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.530690341343946e-4
allele num: 6533
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4239
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.26e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.657137e6

VQSLOD
type: SiteQuality
SIO_000300: -8.069999999999999e-2

QD
type: SiteQuality
SIO_000300: 3.116e1

GenotypeQuality
all individuals: 3828
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 42297
bin: 6.25e1
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GenotypeQuality
all individuals: 242
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GenotypeQuality
all individuals: 3958
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 562
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46437
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.094810597766586e-4
allele num: 9134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9071
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8339
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 589
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4231
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.937e1

DP
type: SiteQuality
SIO_000300: 1.654158e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.568e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.23e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

QD
type: SiteQuality
SIO_000300: 3.286e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 614
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3957
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3800
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9131
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9081
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 589
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4225
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46441
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.530456075910621e-4
allele num: 6534
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.739e0

MQRankSum
type: SiteQuality
SIO_000300: -1.062e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 1.652039e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.23e-1

GenotypeQuality
all individuals: 157
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.75e1
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GenotypeQuality
all individuals: 776
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 5.75e1
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GenotypeQuality
all individuals: 9881
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2990
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3956
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30783
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8999
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.544163063619518e-4
allele num: 6476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8767
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8291
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4121
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.326e1

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

DP
type: SiteQuality
SIO_000300: 1.528204e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.672e0

GenotypeQuality
all individuals: 446
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 28164
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 757
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3959
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 598
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3954
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2860
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 4.596116281741928e-4
allele num: 8703
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8275
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.87e-1

FS
type: SiteQuality
SIO_000300: 2.153e0

VQSLOD
type: SiteQuality
SIO_000300: -2.322e0

DP
type: SiteQuality
SIO_000300: 1.496701e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.63e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.276e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.28e-1

QD
type: SiteQuality
SIO_000300: 2.222e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.01e-1

GenotypeQuality
all individuals: 4192
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3563
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2062
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3925
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3230
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2454
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.874112093854544e-5
allele num: 43642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3912
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6235
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 549
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

QD
type: SiteQuality
SIO_000300: 3.144e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.448244e6

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

GenotypeQuality
all individuals: 383
bin: 1.25e1
variant carriers: 334

GenotypeQuality
all individuals: 5022
bin: 3.75e1
variant carriers: 4975

GenotypeQuality
all individuals: 2698
bin: 4.25e1
variant carriers: 2688

GenotypeQuality
all individuals: 1889
bin: 2.75e1
variant carriers: 1786

GenotypeQuality
all individuals: 250
bin: 2.5e0
variant carriers: 110

GenotypeQuality
all individuals: 3518
bin: 6.25e1
variant carriers: 3414

GenotypeQuality
all individuals: 2000
bin: 5.75e1
variant carriers: 1993

GenotypeQuality
all individuals: 1429
bin: 7.25e1
variant carriers: 1426

GenotypeQuality
all individuals: 1096
bin: 8.75e1
variant carriers: 1090

GenotypeQuality
all individuals: 3015
bin: 6.75e1
variant carriers: 3003

GenotypeQuality
all individuals: 4290
bin: 5.25e1
variant carriers: 4282

GenotypeQuality
all individuals: 2589
bin: 7.75e1
variant carriers: 2584

South Asian
type: Population
allele count: 8282
allele frequency: 9.891317329511525e-1
allele num: 8373
num of homozygotes: 1801

European (Non-Finnish)
type: Population
allele count: 41930
allele frequency: 9.46266164157884e-1
allele num: 44311
num of homozygotes: 12733

African
type: Population
allele count: 8102
allele frequency: 9.88772272394435e-1
allele num: 8194
num of homozygotes: 3217

Latino
type: Population
allele count: 8795
allele frequency: 9.949095022624435e-1
allele num: 8840
num of homozygotes: 3449

East Asian
type: Population
allele count: 6334
allele frequency: 9.996843434343434e-1
allele num: 6336
num of homozygotes: 2292

Other
type: Population
allele count: 547
allele frequency: 9.630281690140845e-1
allele num: 568
num of homozygotes: 162

European (Finnish)
type: Population
allele count: 3879
allele frequency: 9.584877687175686e-1
allele num: 4047
num of homozygotes: 1064

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.092e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.338e1

FS
type: SiteQuality
SIO_000300: 7.41e-1

QD
type: SiteQuality
SIO_000300: 3.49e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

DP
type: SiteQuality
SIO_000300: 1.589934e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

GenotypeQuality
all individuals: 2002
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3548
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4749
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3154
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1064
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5223
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7199
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3139
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.821272393849626e-5
allele num: 35445
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5688
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.888e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.218e0

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

QD
type: SiteQuality
SIO_000300: 1.164e1

DP
type: SiteQuality
SIO_000300: 1.011544e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.09e-1

GenotypeQuality
all individuals: 465
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1628
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4327
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4228
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3669
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 271
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1859
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 662
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3165
bin: 9.75e1
variant carriers: 15

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 5.925750348137833e-4
allele num: 33751
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 433
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4987
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2997
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7026
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6869
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.84e0

DP
type: SiteQuality
SIO_000300: 9.59188e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.335e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

QD
type: SiteQuality
SIO_000300: 1.453e1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

GenotypeQuality
all individuals: 1086
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 722
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3171
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 6187
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5507
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 189
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4779
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4367
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 494
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33271
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7001
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5089
num of homozygotes: 0

Latino
type: Population
allele count: 21
allele frequency: 3.112033195020747e-3
allele num: 6748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4913
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2975
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.549e1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

DP
type: SiteQuality
SIO_000300: 9.51936e5

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3