5-133902098-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902098
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902098
    reference: chr 5
allele count: 2
allele frequency: 1.659558225600345e-5
allele num: 120514
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1262A>T
  hgvsp: ENSP00000378451.1:p.Glu421Val
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.732A>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1262A>T
  hgvsp: ENSP00000354425.2:p.Glu421Val
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1262A>T
  hgvsp: ENSP00000384671.1:p.Glu421Val
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1262A>T
  hgvsp: ENSP00000282605.4:p.Glu421Val
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46864
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu421Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

5-133902105-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902105
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902105
    reference: chr 5
allele count: 4
allele frequency: 3.319777574902481e-5
allele num: 120490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1269G>C
  hgvsp: ENST00000282605.4:c.1269G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1269G>C
  hgvsp: ENST00000361895.2:c.1269G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.739G>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1269G>C
  hgvsp: ENST00000395003.1:c.1269G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1269G>C
  hgvsp: ENST00000402835.1:c.1269G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
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genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16852
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 108
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 875
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genotype quality: GenotypeQuality
  all individuals: 96
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genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1172
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 251
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  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu423Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

5-133902108-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902108
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902108
    reference: chr 5
allele count: 2
allele frequency: 1.660688189185599e-5
allele num: 120432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1272C>T
  hgvsp: ENST00000361895.2:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1272C>T
  hgvsp: ENST00000395003.1:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1272C>T
  hgvsp: ENST00000402835.1:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1272C>T
  hgvsp: ENST00000282605.4:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.742C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 13
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11934
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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: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 249
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  variant carriers: 2
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: 1642
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 95
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genotype quality: GenotypeQuality
  all individuals: 920
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val424Val
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ

5-133902115-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902115
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902115
    reference: chr 5
allele count: 4
allele frequency: 3.324965503482902e-5
allele num: 120302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1279A>G
  hgvsp: ENSP00000354425.2:p.Ile427Val
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1279A>G
  hgvsp: ENSP00000378451.1:p.Ile427Val
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.749A>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1279A>G
  hgvsp: ENSP00000282605.4:p.Ile427Val
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1279A>G
  hgvsp: ENSP00000384671.1:p.Ile427Val
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11887
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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: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
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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: 1638
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile427Val
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

5-133902151-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902151
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902151
    reference: chr 5
allele count: 3
allele frequency: 2.861394071191484e-5
allele num: 104844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1315G>A
  hgvsp: ENSP00000282605.4:p.Ala439Thr
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.785G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1315G>A
  hgvsp: ENSP00000354425.2:p.Ala439Thr
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1315G>A
  hgvsp: ENSP00000378451.1:p.Ala439Thr
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1315G>A
  hgvsp: ENSP00000384671.1:p.Ala439Thr
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32762
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5019
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala439Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/5-133902152-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902152
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902152
    reference: chr 5
allele count: 3
allele frequency: 2.847272313124027e-5
allele num: 105364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1316C>A
  hgvsp: ENSP00000282605.4:p.Ala439Asp
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1316C>A
  hgvsp: ENSP00000354425.2:p.Ala439Asp
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1316C>A
  hgvsp: ENSP00000378451.1:p.Ala439Asp
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.786C>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1316C>A
  hgvsp: ENSP00000384671.1:p.Ala439Asp
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala439Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/5-133902155-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902155
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902155
    reference: chr 5
allele count: 51
allele frequency: 5.068071151744012e-4
allele num: 100630
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1319A>C
  hgvsp: ENSP00000282605.4:p.Asn440Thr
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1319A>C
  hgvsp: ENSP00000354425.2:p.Asn440Thr
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1319A>C
  hgvsp: ENSP00000378451.1:p.Asn440Thr
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1319A>C
  hgvsp: ENSP00000384671.1:p.Asn440Thr
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.789A>C
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15045
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7424
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19735
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12405
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 5
hgvs: p.Asn440Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

5-133902155-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902155
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902155
    reference: chr 5
allele count: 2
allele frequency: 1.987478883036868e-5
allele num: 100630
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.789A>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1319A>G
  hgvsp: ENSP00000378451.1:p.Asn440Ser
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1319A>G
  hgvsp: ENSP00000354425.2:p.Asn440Ser
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1319A>G
  hgvsp: ENSP00000282605.4:p.Asn440Ser
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1319A>G
  hgvsp: ENSP00000384671.1:p.Asn440Ser
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19735
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12405
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn440Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

5-133902160-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902160
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902160
    reference: chr 5
allele count: 1
allele frequency: 9.872837848511177e-6
allele num: 101288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1324C>T
  hgvsp: ENSP00000384671.1:p.Pro442Ser
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1324C>T
  hgvsp: ENSP00000282605.4:p.Pro442Ser
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1324C>T
  hgvsp: ENSP00000354425.2:p.Pro442Ser
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1324C>T
  hgvsp: ENSP00000378451.1:p.Pro442Ser
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.794C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro442Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD

5-133902161-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902161
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902161
    reference: chr 5
allele count: 4
allele frequency: 3.957183276943471e-5
allele num: 101082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1325C>T
  hgvsp: ENSP00000384671.1:p.Pro442Leu
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1325C>T
  hgvsp: ENSP00000282605.4:p.Pro442Leu
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1325C>T
  hgvsp: ENSP00000378451.1:p.Pro442Leu
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1325C>T
  hgvsp: ENSP00000354425.2:p.Pro442Leu
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.795C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18550
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
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genotype quality: GenotypeQuality
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15518
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 481
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro442Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

5-133902162-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902162
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902162
    reference: chr 5
allele count: 15
allele frequency: 1.487593470456394e-4
allele num: 100834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1326G>A
  hgvsp: ENST00000402835.1:c.1326G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1326G>A
  hgvsp: ENST00000361895.2:c.1326G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1326G>A
  hgvsp: ENST00000395003.1:c.1326G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1326G>A
  hgvsp: ENST00000282605.4:c.1326G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.796G>A
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16921
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  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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  bin: 1.75e1
  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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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 599
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 631
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30892
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 15663
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 489
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.75e1
  variant carriers: 15
hgvs: p.Pro442Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

5-133902179-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902179
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902179
    reference: chr 5
allele count: 1
allele frequency: 1.152923814794318e-5
allele num: 86736
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1343C>T
  hgvsp: ENSP00000378451.1:p.Thr448Ile
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.813C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1343C>T
  hgvsp: ENSP00000354425.2:p.Thr448Ile
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1343C>T
  hgvsp: ENSP00000282605.4:p.Thr448Ile
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1343C>T
  hgvsp: ENSP00000384671.1:p.Thr448Ile
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15885
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
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  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
  all individuals: 1157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12884
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr448Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

5-133902180-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902180
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902180
    reference: chr 5
allele count: 6
allele frequency: 6.993333022518533e-5
allele num: 85796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1344C>T
  hgvsp: ENST00000361895.2:c.1344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1344C>T
  hgvsp: ENST00000402835.1:c.1344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1344C>T
  hgvsp: ENST00000282605.4:c.1344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1344C>T
  hgvsp: ENST00000395003.1:c.1344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.814C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12777
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10457
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26925
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr448Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

5-133902181-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902181
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902181
    reference: chr 5
allele count: 6
allele frequency: 7.143537479759977e-5
allele num: 83992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1345G>A
  hgvsp: ENSP00000282605.4:p.Asp449Asn
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.815G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1345G>A
  hgvsp: ENSP00000378451.1:p.Asp449Asn
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1345G>A
  hgvsp: ENSP00000384671.1:p.Asp449Asn
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1345G>A
  hgvsp: ENSP00000354425.2:p.Asp449Asn
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15040
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12673
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9497
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27753
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18529
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp449Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

5-133902183-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902183
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902183
    reference: chr 5
allele count: 4
allele frequency: 4.779772004875368e-5
allele num: 83686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1347C>T
  hgvsp: ENST00000361895.2:c.1347C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1347C>T
  hgvsp: ENST00000402835.1:c.1347C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1347C>T
  hgvsp: ENST00000395003.1:c.1347C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1347C>T
  hgvsp: ENST00000282605.4:c.1347C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.817C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12915
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19517
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp449Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

5-133902186-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902186
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902186
    reference: chr 5
allele count: 1
allele frequency: 1.222463998435246e-5
allele num: 81802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1350G>A
  hgvsp: ENST00000361895.2:c.1350G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1350G>A
  hgvsp: ENST00000395003.1:c.1350G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1350G>A
  hgvsp: ENST00000282605.4:c.1350G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1350G>A
  hgvsp: ENST00000402835.1:c.1350G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.820G>A
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu450Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD

5-133902200-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902200
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902200
    reference: chr 5
allele count: 1
allele frequency: 1.415708703777111e-5
allele num: 70636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1364C>G
  hgvsp: ENSP00000282605.4:p.Ala455Gly
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1364C>G
  hgvsp: ENSP00000384671.1:p.Ala455Gly
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1364C>G
  hgvsp: ENSP00000378451.1:p.Ala455Gly
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.834C>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1364C>G
  hgvsp: ENSP00000354425.2:p.Ala455Gly
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3484
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala455Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum

5-133902216-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902216
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902216
    reference: chr 5
allele count: 6
allele frequency: 1.135374484350755e-4
allele num: 52846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1380C>T
  hgvsp: ENST00000282605.4:c.1380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.850C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1380C>T
  hgvsp: ENST00000361895.2:c.1380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1380C>T
  hgvsp: ENST00000402835.1:c.1380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1380C>T
  hgvsp: ENST00000395003.1:c.1380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8769
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 8060
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 99
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genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 9341
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp460Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

5-133902225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902225
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902225
    reference: chr 5
allele count: 1
allele frequency: 2.206239244583683e-5
allele num: 45326
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1389C>T
  hgvsp: ENST00000395003.1:c.1389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1389C>T
  hgvsp: ENST00000282605.4:c.1389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.859C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1389C>T
  hgvsp: ENST00000402835.1:c.1389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1389C>T
  hgvsp: ENST00000361895.2:c.1389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12092
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  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
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12661
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr463Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

5-133902226-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902226
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902226
    reference: chr 5
allele count: 1
allele frequency: 2.265416156948031e-5
allele num: 44142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1390C>T
  hgvsp: ENSP00000354425.2:p.Arg464Cys
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1390C>T
  hgvsp: ENSP00000282605.4:p.Arg464Cys
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1390C>T
  hgvsp: ENSP00000384671.1:p.Arg464Cys
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1390C>T
  hgvsp: ENSP00000378451.1:p.Arg464Cys
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.860C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29914
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg464Cys
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

5-133902227-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902227
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902227
    reference: chr 5
allele count: 1
allele frequency: 2.467186420605941e-5
allele num: 40532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.861G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1391G>A
  hgvsp: ENSP00000378451.1:p.Arg464His
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1391G>A
  hgvsp: ENSP00000282605.4:p.Arg464His
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1391G>A
  hgvsp: ENSP00000384671.1:p.Arg464His
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1391G>A
  hgvsp: ENSP00000354425.2:p.Arg464His
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13985
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24730
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11115
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7090
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14560
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27464
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg464His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

5-133902234-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902234
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902234
    reference: chr 5
allele count: 3
allele frequency: 8.085817476146839e-5
allele num: 37102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1398G>A
  hgvsp: ENST00000361895.2:c.1398G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.868G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1398G>A
  hgvsp: ENST00000282605.4:c.1398G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1398G>A
  hgvsp: ENST00000402835.1:c.1398G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1398G>A
  hgvsp: ENST00000395003.1:c.1398G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24455
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9483
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7039
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27679
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu466Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

5-133902255-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902255
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902255
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 23800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1419G>A
  hgvsp: ENST00000361895.2:c.1419G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1419G>A
  hgvsp: ENST00000395003.1:c.1419G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1419G>A
  hgvsp: ENST00000402835.1:c.1419G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.889G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1419G>A
  hgvsp: ENST00000282605.4:c.1419G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 28329
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17781
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16560
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28571
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg473Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/5-133902268-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902268
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902268
    reference: chr 5
allele count: 1
allele frequency: 5.02209722780233e-5
allele num: 19912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.902A>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1432A>C
  hgvsp: ENST00000361895.2:c.1432A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1432A>C
  hgvsp: ENST00000282605.4:c.1432A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1432A>C
  hgvsp: ENST00000402835.1:c.1432A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1432A>C
  hgvsp: ENST00000395003.1:c.1432A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14698
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31599
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32002
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1432A>C
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

5-133902285-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902285
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902285
    reference: chr 5
allele count: 1
allele frequency: 7.14694110920526e-5
allele num: 13992
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1434+15C>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1434+15C>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.904+15C>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1434+15C>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1434+15C>G
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31065
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29938
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-133902286-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902286
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902286
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 13842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1434+16G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1434+16G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1434+16G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.904+16G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1434+16G>A
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11843
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3550
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29999
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2945
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

5-133902288-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902288
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902288
    reference: chr 5
allele count: 4659
allele frequency: 3.338827576322201e-1
allele num: 13954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1434+18C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1434+18C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1434+18C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1434+18C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.904+18C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.25e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 12139
  bin: 7.5e0
  variant carriers: 5157
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 1.75e1
  variant carriers: 853
genotype depth: GenotypeDepth
  all individuals: 27715
  bin: 2.5e0
  variant carriers: 2671
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 2.25e1
  variant carriers: 437
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 2.75e1
  variant carriers: 231
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 1.25e1
  variant carriers: 1832
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 20410
  bin: 7.5e0
  variant carriers: 1145
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.75e1
  variant carriers: 325
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 1.75e1
  variant carriers: 937
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 1.25e1
  variant carriers: 784
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 6.25e1
  variant carriers: 465
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 6.75e1
  variant carriers: 372
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.25e1
  variant carriers: 230
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 392
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.75e1
  variant carriers: 145
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 3.25e1
  variant carriers: 497
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 2.75e1
  variant carriers: 715
genotype quality: GenotypeQuality
  all individuals: 8752
  bin: 2.5e0
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.25e1
  variant carriers: 237
genotype quality: GenotypeQuality
  all individuals: 4560
  bin: 2.25e1
  variant carriers: 671
num of homozygotes: 654
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

5-133902290-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902290
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902290
    reference: chr 5
allele count: 8
allele frequency: 7.023705004389816e-4
allele num: 11390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.904+20G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1434+20G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1434+20G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1434+20G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1434+20G>T
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2846
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.75e1
  variant carriers: 8
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/5-133902293-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902293
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902293
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 10504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1434+23C>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1434+23C>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1434+23C>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1434+23C>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.904+23C>A
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35015
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5899
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31812
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3837
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/5-133902294-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902294
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902294
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 10256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1434+24A>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1434+24A>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1434+24A>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.904+24A>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1434+24A>C
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35018
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4975
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31095
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

5-133902311-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902311
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902311
    reference: chr 5
allele count: 1
allele frequency: 1.284686536485098e-4
allele num: 7784
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1434+41T>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1434+41T>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1434+41T>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1434+41T>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.904+41T>A
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8536
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

5-133902317-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133902317
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133902317
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 7354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1434+47A>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1434+47A>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1434+47A>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1434+47A>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.904+47A>G
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10488
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23006
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

5-133909289-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909289
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909289
    reference: chr 5
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1435-46G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.905-46G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1435-46G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1435-46G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3169G>A
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8242
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7141
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genotype depth: GenotypeDepth
  all individuals: 189
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7914
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
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genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1533
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genotype depth: GenotypeDepth
  all individuals: 6042
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1820
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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: 5217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
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genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 8.25e1
  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
  all individuals: 95
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genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

5-133909293-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909293
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909293
    reference: chr 5
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3165G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1435-42G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.905-42G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1435-42G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1435-42G>A
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
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  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  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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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
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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
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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: 2022
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genotype quality: GenotypeQuality
  all individuals: 2927
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genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

5-133909296-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909296
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909296
    reference: chr 5
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.905-39G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1435-39G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3162G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1435-39G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1435-39G>T
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7250
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 5.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
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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 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
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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: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39349
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

5-133909297-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909297
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909297
    reference: chr 5
allele count: 2
allele frequency: 1.648994937585542e-5
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.905-38C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1435-38C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1435-38C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1435-38C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3161C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5424
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

5-133909298-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909298
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909299
    reference: chr 5
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.905-36dupT
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3159dupT
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1435-36dupT
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1435-36dupT
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1435-36dupT
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

5-133909299-TGTGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909299
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909295
    reference: chr 5
allele count: 3
allele frequency: 2.472676920033628e-5
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3156_1435-3153delGAGT
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1435-33_1435-30delGAGT
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1435-33_1435-30delGAGT
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.905-33_905-30delGAGT
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1435-33_1435-30delGAGT
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7297
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: TGTGA
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/5-133909307-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909307
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909307
    reference: chr 5
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1435-28A>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1435-28A>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.905-28A>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3151A>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1435-28A>C
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39366
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

5-133909309-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909309
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909309
    reference: chr 5
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.905-26G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1435-26G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1435-26G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1435-26G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3149G>A
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39367
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

5-133909311-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909311
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909311
    reference: chr 5
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3147G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1435-24G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1435-24G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1435-24G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.905-24G>A
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8249
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39372
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
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genotype quality: GenotypeQuality
  all individuals: 2954
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2932
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

5-133909323-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909323
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909323
    reference: chr 5
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1435-12T>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1435-12T>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.905-12T>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3135T>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1435-12T>A
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2957
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
  all individuals: 21
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

5-133909323-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909323
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909323
    reference: chr 5
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.905-12T>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1435-12T>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1435-12T>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3135T>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1435-12T>G
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5681
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2986
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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: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39381
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

5-133909330-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909330
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909330
    reference: chr 5
allele count: 3
allele frequency: 2.471576866040534e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.905-5C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1435-5C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1435-5C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1435-5C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3128C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8251
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5701
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1435-5C>T
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

7-55588749-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588749
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55588749
    reference: chr 7
allele count: 8
allele frequency: 3.000525091891081e-4
allele num: 26662
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.202+16T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.86+16T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*233+16T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000481197
  gene symbol: VOPP1
  hgvsc: ENST00000481197.1:n.349+16T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-89+16T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.248+16T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-89+16T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.104+16T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.2+16T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.113+16T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411737
  ensembl transcript: ENST00000417399
  gene symbol: VOPP1
  hgvsc: ENST00000417399.1:c.-89+16T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.62+16T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000389601
  ensembl transcript: ENST00000428097
  gene symbol: VOPP1
  hgvsc: ENST00000428097.1:c.-89+16T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.107+16T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-89+16T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-89+16T>C
  variant of: http://identifiers.org/hgnc/34518
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-55588756-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588756
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55588756
    reference: chr 7
allele count: 1
allele frequency: 3.615067601764153e-5
allele num: 27662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.107+9T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*233+9T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.248+9T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.2+9T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.113+9T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-89+9T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-89+9T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-89+9T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411737
  ensembl transcript: ENST00000417399
  gene symbol: VOPP1
  hgvsc: ENST00000417399.1:c.-89+9T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000481197
  gene symbol: VOPP1
  hgvsc: ENST00000481197.1:n.349+9T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-89+9T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.202+9T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.86+9T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.62+9T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000389601
  ensembl transcript: ENST00000428097
  gene symbol: VOPP1
  hgvsc: ENST00000428097.1:c.-89+9T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.104+9T>G
  variant of: http://identifiers.org/hgnc/34518
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

7-55588758-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588758
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55588758
    reference: chr 7
allele count: 1
allele frequency: 3.592986490370796e-5
allele num: 27832
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.2+7A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-89+7A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.107+7A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.248+7A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.86+7A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.113+7A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000389601
  ensembl transcript: ENST00000428097
  gene symbol: VOPP1
  hgvsc: ENST00000428097.1:c.-89+7A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.104+7A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-89+7A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.202+7A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000481197
  gene symbol: VOPP1
  hgvsc: ENST00000481197.1:n.349+7A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-89+7A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.62+7A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-89+7A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411737
  ensembl transcript: ENST00000417399
  gene symbol: VOPP1
  hgvsc: ENST00000417399.1:c.-89+7A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*233+7A>G
  variant of: http://identifiers.org/hgnc/34518
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.113+7A>G
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

7-55588766-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588766
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55588766
    reference: chr 7
allele count: 1
allele frequency: 3.464283239797686e-5
allele num: 28866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.1A>G
  hgvsp: ENSP00000411447.1:p.Met1?
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*232A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-90A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.112A>G
  hgvsp: ENSP00000285279.5:p.Ile38Val
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-90A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000481197
  gene symbol: VOPP1
  hgvsc: ENST00000481197.1:n.348A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.61A>G
  hgvsp: ENSP00000393210.1:p.Ile21Val
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.106A>G
  hgvsp: ENSP00000407356.1:p.Ile36Val
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000389601
  ensembl transcript: ENST00000428097
  gene symbol: VOPP1
  hgvsc: ENST00000428097.1:c.-90A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.247A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-90A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.201A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.103A>G
  hgvsp: ENSP00000446442.1:p.Ile35Val
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411737
  ensembl transcript: ENST00000417399
  gene symbol: VOPP1
  hgvsc: ENST00000417399.1:c.-90A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.85A>G
  hgvsp: ENSP00000415230.1:p.Ile29Val
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-90A>G
  variant of: http://identifiers.org/hgnc/34518
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

7-55588766-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588766
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55588765
    reference: chr 7
allele count: 1
allele frequency: 3.464283239797686e-5
allele num: 28866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-91delT
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.84delT
  hgvsp: ENSP00000415230.1:p.Tyr28Ter
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-1delT
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.60delT
  hgvsp: ENSP00000393210.1:p.Tyr20Ter
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000481197
  gene symbol: VOPP1
  hgvsc: ENST00000481197.1:n.347delT
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*231delT
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.102delT
  hgvsp: ENSP00000446442.1:p.Tyr34Ter
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000389601
  ensembl transcript: ENST00000428097
  gene symbol: VOPP1
  hgvsc: ENST00000428097.1:c.-91delT
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.105delT
  hgvsp: ENSP00000407356.1:p.Tyr35Ter
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.111delT
  hgvsp: ENSP00000285279.5:p.Tyr37Ter
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411737
  ensembl transcript: ENST00000417399
  gene symbol: VOPP1
  hgvsc: ENST00000417399.1:c.-91delT
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.200delT
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.246delT
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-91delT
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-91delT
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-91delT
  variant of: http://identifiers.org/hgnc/34518
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Tyr37Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: TA
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

7-55588774-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588774
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55588774
    reference: chr 7
allele count: 2
allele frequency: 6.719978496068813e-5
allele num: 29762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-98C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.95C>A
  hgvsp: ENSP00000446442.1:p.Thr32Asn
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.53C>A
  hgvsp: ENSP00000393210.1:p.Thr18Asn
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-98C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000481197
  gene symbol: VOPP1
  hgvsc: ENST00000481197.1:n.340C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.104C>A
  hgvsp: ENSP00000285279.5:p.Thr35Asn
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-98C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-8C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.193C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411737
  ensembl transcript: ENST00000417399
  gene symbol: VOPP1
  hgvsc: ENST00000417399.1:c.-98C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.77C>A
  hgvsp: ENSP00000415230.1:p.Thr26Asn
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*224C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000389601
  ensembl transcript: ENST00000428097
  gene symbol: VOPP1
  hgvsc: ENST00000428097.1:c.-98C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.239C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.98C>A
  hgvsp: ENSP00000407356.1:p.Thr33Asn
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-98C>A
  variant of: http://identifiers.org/hgnc/34518
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr35Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

7-55588784-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588784
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55588784
    reference: chr 7
allele count: 1
allele frequency: 3.209654641160611e-5
allele num: 31156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000389601
  ensembl transcript: ENST00000428097
  gene symbol: VOPP1
  hgvsc: ENST00000428097.1:c.-108C>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.43C>G
  hgvsp: ENSP00000393210.1:p.Leu15Val
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-18C>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.88C>G
  hgvsp: ENSP00000407356.1:p.Leu30Val
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.85C>G
  hgvsp: ENSP00000446442.1:p.Leu29Val
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.94C>G
  hgvsp: ENSP00000285279.5:p.Leu32Val
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.67C>G
  hgvsp: ENSP00000415230.1:p.Leu23Val
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.183C>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*214C>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-108C>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-108C>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411737
  ensembl transcript: ENST00000417399
  gene symbol: VOPP1
  hgvsc: ENST00000417399.1:c.-108C>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000481197
  gene symbol: VOPP1
  hgvsc: ENST00000481197.1:n.330C>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-108C>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-108C>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.229C>G
  variant of: http://identifiers.org/hgnc/34518
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu32Val
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

7-55588806-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588806
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55588806
    reference: chr 7
allele count: 1
allele frequency: 3.135189365437672e-5
allele num: 31896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-130G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.45G>A
  hgvsp: ENST00000433959.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.72G>A
  hgvsp: ENST00000285279.5:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411737
  ensembl transcript: ENST00000417399
  gene symbol: VOPP1
  hgvsc: ENST00000417399.1:c.-130G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.63G>A
  hgvsp: ENST00000545390.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.66G>A
  hgvsp: ENST00000427700.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-130G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-130G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000481197
  gene symbol: VOPP1
  hgvsc: ENST00000481197.1:n.308G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000389601
  ensembl transcript: ENST00000428097
  gene symbol: VOPP1
  hgvsc: ENST00000428097.1:c.-130G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.161G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.21G>A
  hgvsp: ENST00000418904.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*192G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.207G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-130G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-40G>A
  variant of: http://identifiers.org/hgnc/34518
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys24Lys
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

7-55588822-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588822
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55588822
    reference: chr 7
allele count: 2
allele frequency: 6.374705169885892e-5
allele num: 31374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-146G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.47G>A
  hgvsp: ENSP00000446442.1:p.Cys16Tyr
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.50G>A
  hgvsp: ENSP00000407356.1:p.Cys17Tyr
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000481197
  gene symbol: VOPP1
  hgvsc: ENST00000481197.1:n.292G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.191G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411737
  ensembl transcript: ENST00000417399
  gene symbol: VOPP1
  hgvsc: ENST00000417399.1:c.-146G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-146G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000389601
  ensembl transcript: ENST00000428097
  gene symbol: VOPP1
  hgvsc: ENST00000428097.1:c.-146G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.56G>A
  hgvsp: ENSP00000285279.5:p.Cys19Tyr
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*176G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.5G>A
  hgvsp: ENSP00000393210.1:p.Cys2Tyr
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-146G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.29G>A
  hgvsp: ENSP00000415230.1:p.Cys10Tyr
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-56G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-146G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.145G>A
  variant of: http://identifiers.org/hgnc/34518
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys19Tyr
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ

7-55588831-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588831
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55588831
    reference: chr 7
allele count: 2
allele frequency: 6.592392379194409e-5
allele num: 30338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.190-8A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-147-8A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.28-8A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000389601
  ensembl transcript: ENST00000428097
  gene symbol: VOPP1
  hgvsc: ENST00000428097.1:c.-147-8A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.46-8A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-57-8A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.4-8A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-147-8A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*175-8A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.55-8A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-147-8A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411737
  ensembl transcript: ENST00000417399
  gene symbol: VOPP1
  hgvsc: ENST00000417399.1:c.-147-8A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.144-8A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000481197
  gene symbol: VOPP1
  hgvsc: ENST00000481197.1:n.291-8A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-147-8A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.49-8A>G
  variant of: http://identifiers.org/hgnc/34518
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20098
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.55-8A>G
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

7-55588832-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588832
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55588832
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 30100
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.46-9T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-147-9T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-147-9T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000481197
  gene symbol: VOPP1
  hgvsc: ENST00000481197.1:n.291-9T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.28-9T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.190-9T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411737
  ensembl transcript: ENST00000417399
  gene symbol: VOPP1
  hgvsc: ENST00000417399.1:c.-147-9T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-147-9T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.144-9T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.55-9T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*175-9T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.4-9T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.49-9T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-147-9T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000389601
  ensembl transcript: ENST00000428097
  gene symbol: VOPP1
  hgvsc: ENST00000428097.1:c.-147-9T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-57-9T>C
  variant of: http://identifiers.org/hgnc/34518
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20810
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23283
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

7-55588835-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588835
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55588835
    reference: chr 7
allele count: 1
allele frequency: 3.402749421532598e-5
allele num: 29388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.46-12T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-147-12T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-57-12T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.55-12T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000481197
  gene symbol: VOPP1
  hgvsc: ENST00000481197.1:n.291-12T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000389601
  ensembl transcript: ENST00000428097
  gene symbol: VOPP1
  hgvsc: ENST00000428097.1:c.-147-12T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.28-12T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.144-12T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.190-12T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.49-12T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411737
  ensembl transcript: ENST00000417399
  gene symbol: VOPP1
  hgvsc: ENST00000417399.1:c.-147-12T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.4-12T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-147-12T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-147-12T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-147-12T>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*175-12T>C
  variant of: http://identifiers.org/hgnc/34518
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/7-55588842-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588842
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55588842
    reference: chr 7
allele count: 1
allele frequency: 3.485778025655326e-5
allele num: 28688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.190-19T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*175-19T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.144-19T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000481197
  gene symbol: VOPP1
  hgvsc: ENST00000481197.1:n.291-19T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.28-19T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.46-19T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.4-19T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-147-19T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.49-19T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-147-19T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-57-19T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.55-19T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411737
  ensembl transcript: ENST00000417399
  gene symbol: VOPP1
  hgvsc: ENST00000417399.1:c.-147-19T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-147-19T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000389601
  ensembl transcript: ENST00000428097
  gene symbol: VOPP1
  hgvsc: ENST00000428097.1:c.-147-19T>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-147-19T>G
  variant of: http://identifiers.org/hgnc/34518
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

7-55588848-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588848
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55588848
    reference: chr 7
allele count: 2
allele frequency: 7.312079555425563e-5
allele num: 27352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.28-25A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.144-25A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-57-25A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-147-25A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-147-25A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.190-25A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*175-25A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411737
  ensembl transcript: ENST00000417399
  gene symbol: VOPP1
  hgvsc: ENST00000417399.1:c.-147-25A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.46-25A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000481197
  gene symbol: VOPP1
  hgvsc: ENST00000481197.1:n.291-25A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-147-25A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-147-25A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.55-25A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.4-25A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.49-25A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000389601
  ensembl transcript: ENST00000428097
  gene symbol: VOPP1
  hgvsc: ENST00000428097.1:c.-147-25A>T
  variant of: http://identifiers.org/hgnc/34518
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

7-55588848-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588848
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55588848
    reference: chr 7
allele count: 1
allele frequency: 3.656039777712781e-5
allele num: 27352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.144-25A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.49-25A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*175-25A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.190-25A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-147-25A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-147-25A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-147-25A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411737
  ensembl transcript: ENST00000417399
  gene symbol: VOPP1
  hgvsc: ENST00000417399.1:c.-147-25A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.4-25A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-147-25A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.55-25A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-57-25A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.28-25A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000481197
  gene symbol: VOPP1
  hgvsc: ENST00000481197.1:n.291-25A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.46-25A>G
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000389601
  ensembl transcript: ENST00000428097
  gene symbol: VOPP1
  hgvsc: ENST00000428097.1:c.-147-25A>G
  variant of: http://identifiers.org/hgnc/34518
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

7-55588866-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55588866
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55588866
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 24910
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-147-43G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-147-43G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-147-43G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.55-43G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.46-43G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.28-43G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411737
  ensembl transcript: ENST00000417399
  gene symbol: VOPP1
  hgvsc: ENST00000417399.1:c.-147-43G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000389601
  ensembl transcript: ENST00000428097
  gene symbol: VOPP1
  hgvsc: ENST00000428097.1:c.-147-43G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.49-43G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.190-43G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000481197
  gene symbol: VOPP1
  hgvsc: ENST00000481197.1:n.291-43G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-147-43G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*175-43G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.144-43G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.4-43G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-57-43G>C
  variant of: http://identifiers.org/hgnc/34518
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16652
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27632
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

7-55605148-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55605148
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55605148
    reference: chr 7
allele count: 1
allele frequency: 7.15307582260372e-5
allele num: 13980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-148+2034G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.3+15198G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-148+104G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.144-16325G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.190-16325G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.55-16325G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.45+1158G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.49-16325G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-57-16325G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-230-6544G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.27+46G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*175-16325G>C
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-147-16325G>C
  variant of: http://identifiers.org/hgnc/34518
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

7-55605148-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55605148
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55605148
    reference: chr 7
allele count: 10
allele frequency: 7.15307582260372e-4
allele num: 13980
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.55-16325G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-57-16325G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.49-16325G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-230-6544G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-147-16325G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.190-16325G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-148+2034G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.45+1158G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-148+104G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.144-16325G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.27+46G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*175-16325G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.3+15198G>A
  variant of: http://identifiers.org/hgnc/34518
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

7-55605183-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55605183
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55605183
    reference: chr 7
allele count: 15
allele frequency: 1.075885812652417e-3
allele num: 13942
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.55-16360G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.45+1123G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.27+11G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-58+16321G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.49-16360G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.144-16360G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-148+1999G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-230-6579G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-148+69G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.190-16360G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-147-16360G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.3+15163G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*175-16360G>A
  variant of: http://identifiers.org/hgnc/34518
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

7-55605184-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55605184
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55605184
    reference: chr 7
allele count: 2
allele frequency: 1.433691756272401e-4
allele num: 13950
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-148+68C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-58+16320C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.144-16361C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.190-16361C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.49-16361C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.45+1122C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-148+1998C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.55-16361C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-147-16361C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.3+15162C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-230-6580C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.27+10C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*175-16361C>T
  variant of: http://identifiers.org/hgnc/34518
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

7-55605193-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55605193
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55605193
    reference: chr 7
allele count: 1
allele frequency: 7.200460829493088e-5
allele num: 13888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.45+1113G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-147-16370G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.49-16370G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-148+1989G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*175-16370G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.190-16370G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-148+59G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-58+16311G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-230-6589G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.55-16370G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.27+1G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.3+15153G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.144-16370G>A
  variant of: http://identifiers.org/hgnc/34518
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.27+1G>A
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

7-55605208-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55605208
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55605208
    reference: chr 7
allele count: 1
allele frequency: 7.261109497531223e-5
allele num: 13772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-148+44G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-147-16385G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.49-16385G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-58+16296G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.13G>A
  hgvsp: ENSP00000415230.1:p.Gly5Ser
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.45+1098G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*175-16385G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-230-6604G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.3+15138G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.55-16385G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.190-16385G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-148+1974G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.144-16385G>A
  variant of: http://identifiers.org/hgnc/34518
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly5Ser
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-55605217-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55605217
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55605217
    reference: chr 7
allele count: 2
allele frequency: 1.459427904261529e-4
allele num: 13704
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-58+16287C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.49-16394C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.190-16394C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.4C>T
  hgvsp: ENSP00000415230.1:p.Arg2Ter
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-147-16394C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.3+15129C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.144-16394C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-230-6613C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*175-16394C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.45+1089C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.55-16394C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-148+35C>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-148+1965C>T
  variant of: http://identifiers.org/hgnc/34518
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg2Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

7-55605225-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55605225
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55605225
    reference: chr 7
allele count: 3
allele frequency: 2.198124267291911e-4
allele num: 13648
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.55-16402A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-148+27A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.3+15121A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.-5A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-230-6621A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.190-16402A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-58+16279A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-147-16402A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-148+1957A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.49-16402A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*175-16402A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.45+1081A>T
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.144-16402A>T
  variant of: http://identifiers.org/hgnc/34518
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

7-55605236-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55605236
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55605236
    reference: chr 7
allele count: 6
allele frequency: 4.437869822485207e-4
allele num: 13520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.190-16413C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*175-16413C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-148+16C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.144-16413C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-230-6632C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.45+1070C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-148+1946C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.49-16413C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-147-16413C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.3+15110C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.-16C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-58+16268C>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.55-16413C>A
  variant of: http://identifiers.org/hgnc/34518
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

7-55605247-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55605247
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 55605247
    reference: chr 7
allele count: 9
allele frequency: 6.764882742032472e-4
allele num: 13304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000408161
  ensembl transcript: ENST00000452832
  gene symbol: VOPP1
  hgvsc: ENST00000452832.1:c.-230-6643G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000471168
  gene symbol: VOPP1
  hgvsc: ENST00000471168.1:n.190-16424G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407356
  ensembl transcript: ENST00000427700
  gene symbol: VOPP1
  hgvsc: ENST00000427700.1:c.49-16424G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000407579
  ensembl transcript: ENST00000455023
  gene symbol: VOPP1
  hgvsc: ENST00000455023.1:c.-148+1935G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000413948
  ensembl transcript: ENST00000428648
  gene symbol: VOPP1
  hgvsc: ENST00000428648.1:c.-147-16424G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000393210
  ensembl transcript: ENST00000418904
  gene symbol: VOPP1
  hgvsc: ENST00000418904.1:c.3+15099G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl transcript: ENST00000462326
  gene symbol: VOPP1
  hgvsc: ENST00000462326.1:n.144-16424G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000415230
  ensembl transcript: ENST00000433959
  gene symbol: VOPP1
  hgvsc: ENST00000433959.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000416530
  ensembl transcript: ENST00000414113
  gene symbol: VOPP1
  hgvsc: ENST00000414113.1:c.-148+5G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000411447
  ensembl transcript: ENST00000454227
  gene symbol: VOPP1
  hgvsc: ENST00000454227.1:c.-58+16257G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000395131
  ensembl transcript: ENST00000453112
  gene symbol: VOPP1
  hgvsc: ENST00000453112.1:c.*175-16424G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000285279
  ensembl transcript: ENST00000285279
  gene symbol: VOPP1
  hgvsc: ENST00000285279.5:c.55-16424G>A
  variant of: http://identifiers.org/hgnc/34518
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154978
  ensembl protein: ENSP00000446442
  ensembl transcript: ENST00000545390
  gene symbol: VOPP1
  hgvsc: ENST00000545390.1:c.45+1059G>A
  variant of: http://identifiers.org/hgnc/34518
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-148+5G>A
num of homozygotes: 0
population: African
reference allele: C

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8782
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.949697796841489e-4
allele num: 10258
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.015e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.079e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.644234e6

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8752
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.423361201987156e-4
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.58e-1

DP
type: SiteQuality
SIO_000300: 1.642897e6

QD
type: SiteQuality
SIO_000300: 1.249e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

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

GenotypeQuality
all individuals: 46714
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.021969719863407e-5
allele num: 66182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.108e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-2

DP
type: SiteQuality
SIO_000300: 1.641578e6

FS
type: SiteQuality
SIO_000300: 7.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8700
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 9.75e1
variant carriers: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.046680372475511e-5
allele num: 66152
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.184e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.67e-1

DP
type: SiteQuality
SIO_000300: 1.636739e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 4.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

MQRankSum
type: SiteQuality
SIO_000300: 8.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
all individuals: 87
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1008
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.173662608215776e-5
allele num: 57986
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.35835e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: -1.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.558e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

QD
type: SiteQuality
SIO_000300: 1.71e1

GenotypeQuality
all individuals: 1021
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.145621076463929e-5
allele num: 58302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8734
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.238e0

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 1.3566e6

QD
type: SiteQuality
SIO_000300: 1.75e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

GenotypeQuality
all individuals: 83
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 30461
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 865
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 668
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 919
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 526
bin: 4.25e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 5.764519383196426e-4
allele num: 55512
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.132231404958678e-4
allele num: 7260
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.791566842357451e-4
allele num: 8348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 12
allele frequency: 2.880460873739798e-3
allele num: 4166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.31191e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.213e0

FS
type: SiteQuality
SIO_000300: 5.8075e1

VQSLOD
type: SiteQuality
SIO_000300: -1.758e1

MQ
type: SiteQuality
SIO_000300: 5.857e1

QD
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
all individuals: 83
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1428
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.040149781568546e-4
allele num: 9614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.801412307248883e-5
allele num: 55512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: -1.758e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

FS
type: SiteQuality
SIO_000300: 5.8075e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.26e-1

MQ
type: SiteQuality
SIO_000300: 5.857e1

DP
type: SiteQuality
SIO_000300: 1.31191e6

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.213e0

GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7088
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.780246386099836e-5
allele num: 56172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14788
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.422e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.794e-1

DP
type: SiteQuality
SIO_000300: 1.239545e6

MQRankSum
type: SiteQuality
SIO_000300: 2.38e0

QD
type: SiteQuality
SIO_000300: 1.211e1

GenotypeQuality
all individuals: 274
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30073
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.138013490845498e-5
allele num: 56038
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4638
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.39e-1

FS
type: SiteQuality
SIO_000300: 4.116e0

QD
type: SiteQuality
SIO_000300: 1.835e1

MQRankSum
type: SiteQuality
SIO_000300: -5.18e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

DP
type: SiteQuality
SIO_000300: 1.235816e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.14e-1

GenotypeQuality
all individuals: 466
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1580
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4368
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55932
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9234
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7042
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4612
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 1.016949152542373e-3
allele num: 14750
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.181e1

FS
type: SiteQuality
SIO_000300: 3.136e0

InbreedingCoeff
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SIO_000300: -3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.372e0

VQSLOD
type: SiteQuality
SIO_000300: -7.915e-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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bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
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South Asian
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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: 5836
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.085331776285607e-5
allele num: 47954
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7536
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.058e0

FS
type: SiteQuality
SIO_000300: 5.216e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.873e1

QD
type: SiteQuality
SIO_000300: 1.253e1

DP
type: SiteQuality
SIO_000300: 1.005732e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.485e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: -2.082e0

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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5742
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African
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allele count: 1
allele frequency: 1.337613697164259e-4
allele num: 7476
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.219231256065145e-5
allele num: 47402
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 4.037685060565276e-4
allele num: 7430
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

FS
type: SiteQuality
SIO_000300: 1.833e0

QD
type: SiteQuality
SIO_000300: 1.295e1

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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variant carriers: 0

East Asian
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allele count: 2
allele frequency: 3.5650623885918e-4
allele num: 5610
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.632596685082873e-5
allele num: 46336
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7366
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13240
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.296e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.83e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.68472e5

QD
type: SiteQuality
SIO_000300: 1.324e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-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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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5588
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South Asian
type: Population
allele count: 2
allele frequency: 1.513546238837597e-4
allele num: 13214
num of homozygotes: 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: 7202
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.367240907847963e-4
allele num: 7314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.165908598657137e-5
allele num: 46170
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

QD
type: SiteQuality
SIO_000300: 1.19e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.94e-1

FS
type: SiteQuality
SIO_000300: 2.291e0

DP
type: SiteQuality
SIO_000300: 9.65215e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-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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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3498
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.429796968830426e-4
allele num: 6994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44994
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7188
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.031e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.376e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

QD
type: SiteQuality
SIO_000300: 1.818e1

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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.605387942264603e-5
allele num: 38382
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12100
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.906e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

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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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3800
num of homozygotes: 0

South Asian
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allele count: 6
allele frequency: 5.631687629059508e-4
allele num: 10654
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Other
type: Population
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allele frequency: 0.0e0
allele num: 380
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3232
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 27996
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1904
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4880
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DP
type: SiteQuality
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FS
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QD
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ClippingRankSum
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MQ
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2684
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1528
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 23542
num of homozygotes: 0

South Asian
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allele frequency: 1.000400160064026e-4
allele num: 9996
num of homozygotes: 0

FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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DP
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QD
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BaseQRankSum
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VQSLOD
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MQRankSum
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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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African
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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
allele num: 330
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.013581998783702e-4
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Latino
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2558
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1446
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.315e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.81e-2

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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QD
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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variant carriers: 0

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 frequency: 0.0e0
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European (Finnish)
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African
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Latino
type: Population
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
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South Asian
type: Population
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allele frequency: 1.051745898190997e-4
allele num: 9508
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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BaseQRankSum
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VQSLOD
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QD
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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
all individuals: 770
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 5.307855626326964e-5
allele num: 18840
num of homozygotes: 0

Latino
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num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.232862375719519e-4
allele num: 3822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9106
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.527e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.256e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.38e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 5.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 5.74687e5

VQSLOD
type: SiteQuality
SIO_000300: 3.43e-1

GenotypeQuality
all individuals: 219
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1010
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.208e1

DP
type: SiteQuality
SIO_000300: 4.34251e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.51e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.026e0

VQSLOD
type: SiteQuality
SIO_000300: -1.497e0

GenotypeQuality
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2512
bin: 1.25e1
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GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.298701298701299e-3
allele num: 770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9110
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.72665e5

QD
type: SiteQuality
SIO_000300: 1.084e1

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.09e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 99
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.351834430856068e-4
allele num: 4252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2360
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

QD
type: SiteQuality
SIO_000300: 1.753e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.87e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.122e0

VQSLOD
type: SiteQuality
SIO_000300: -2.673e-1

DP
type: SiteQuality
SIO_000300: 2.96576e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

GenotypeQuality
all individuals: 56
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4186
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.452e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.355e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.12e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.07e-1

FS
type: SiteQuality
SIO_000300: 3.438e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

DP
type: SiteQuality
SIO_000300: 2.95929e5

GenotypeQuality
all individuals: 324
bin: 7.25e1
variant carriers: 285

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 145

GenotypeQuality
all individuals: 346
bin: 5.75e1
variant carriers: 327

GenotypeQuality
all individuals: 230
bin: 7.75e1
variant carriers: 184

GenotypeQuality
all individuals: 3953
bin: 9.75e1
variant carriers: 3896

Other
type: Population
allele count: 47
allele frequency: 3.73015873015873e-1
allele num: 126
num of homozygotes: 8

European (Finnish)
type: Population
allele count: 22
allele frequency: 3.235294117647059e-1
allele num: 68
num of homozygotes: 2

African
type: Population
allele count: 788
allele frequency: 3.338983050847458e-1
allele num: 2360
num of homozygotes: 108

Latino
type: Population
allele count: 123
allele frequency: 3.727272727272727e-1
allele num: 330
num of homozygotes: 20

East Asian
type: Population
allele count: 79
allele frequency: 1.531007751937984e-1
allele num: 516
num of homozygotes: 4

South Asian
type: Population
allele count: 1255
allele frequency: 3.015377222489188e-1
allele num: 4162
num of homozygotes: 150

European (Non-Finnish)
type: Population
allele count: 2345
allele frequency: 3.668648310387985e-1
allele num: 6392
num of homozygotes: 362

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 3.03193e5

VQSLOD
type: SiteQuality
SIO_000300: 5.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.069e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.026e0

QD
type: SiteQuality
SIO_000300: 1.907e1

GenotypeQuality
all individuals: 77
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6920
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 992
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variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 8
allele frequency: 2.600780234070221e-3
allele num: 3076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.000000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

QD
type: SiteQuality
SIO_000300: 1.946e1

DP
type: SiteQuality
SIO_000300: 2.5408e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.927e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.073e-1

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 175
bin: 9.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.31e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.381e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

QD
type: SiteQuality
SIO_000300: 2.273e1

DP
type: SiteQuality
SIO_000300: 2.41577e5

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 86
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GenotypeQuality
all individuals: 58
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4768
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.75e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.321e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

DP
type: SiteQuality
SIO_000300: 2.40403e5

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

QD
type: SiteQuality
SIO_000300: 2.173e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25261
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3954
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1978
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.771929824561404e-4
allele num: 1140
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.550000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.595e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

DP
type: SiteQuality
SIO_000300: 1.99155e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.7e-2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 6.25e1
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GenotypeQuality
all individuals: 24
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3802
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.327e1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.91e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 1.9699e5

GenotypeQuality
all individuals: 39319
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2679
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variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.49e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.762612e6

VQSLOD
type: SiteQuality
SIO_000300: -3.86e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.713e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 131
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1824
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5375
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000030000300003e-5
allele num: 66666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.837e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.765038e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.384e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.97e-1

FS
type: SiteQuality
SIO_000300: 3.169e0

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2025
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2893
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.05e-1

DP
type: SiteQuality
SIO_000300: 2.766111e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.99e-1

QD
type: SiteQuality
SIO_000300: 1.176e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.218e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000660145231951e-5
allele num: 66652
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 7.374e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.602e0

QD
type: SiteQuality
SIO_000300: 1.172e1

DP
type: SiteQuality
SIO_000300: 2.766676e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5472
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.767131e6

MQ
type: SiteQuality
SIO_000300: 6.092e1

QD
type: SiteQuality
SIO_000300: 1.846e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.169e0

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.979e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.491e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 1.046e1

DP
type: SiteQuality
SIO_000300: 2.767658e6

MQRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e-1

MQ
type: SiteQuality
SIO_000300: 5.531e1

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

GenotypeQuality
all individuals: 2952
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5647
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 2966
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.108e-1

DP
type: SiteQuality
SIO_000300: 2.769494e6

MQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

FS
type: SiteQuality
SIO_000300: 8.417e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.85e0

GenotypeQuality
all individuals: 5681
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.632e0

MQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.656e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.082e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.94e-1

DP
type: SiteQuality
SIO_000300: 2.769948e6

VQSLOD
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.34e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2978
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 2049
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.017e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.735e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.046e0

FS
type: SiteQuality
SIO_000300: 1.319e0

DP
type: SiteQuality
SIO_000300: 2.770566e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 6.55e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2725
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

East Asian
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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
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.814e0

DP
type: SiteQuality
SIO_000300: 2.771781e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2725
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2944
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.515e1

DP
type: SiteQuality
SIO_000300: 2.771781e6

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.698e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.814e0

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.496268097479092e-5
allele num: 66722
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.812e0

MQRankSum
type: SiteQuality
SIO_000300: 9.77e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.772258e6

ReadPosRankSum
type: SiteQuality
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GenotypeDepth
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variant carriers: 5

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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bin: 2.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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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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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: 8

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

East Asian
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allele frequency: 6.557377049180328e-3
allele num: 1220
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12042
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2694
num of homozygotes: 0

European (Finnish)
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

VQSLOD
type: SiteQuality
SIO_000300: 4.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.71e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 1.7e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

DP
type: SiteQuality
SIO_000300: 7.63823e5

BaseQRankSum
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SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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
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allele count: 1
allele frequency: 1.240387000744232e-4
allele num: 8062
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2802
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.937e1

DP
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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FS
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SIO_000300: 9.629e0

InbreedingCoeff
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SIO_000300: -2.89e-2

QD
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SIO_000300: 1.811e1

MQRankSum
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SIO_000300: -4.99e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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: 1
allele frequency: 3.561253561253561e-4
allele num: 2808
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1826
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1382
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12728
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

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

ClippingRankSum
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -2.81e-2

BaseQRankSum
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SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 1.775e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 7.89343e5

VQSLOD
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SIO_000300: -2.983e0

MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.53e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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: 2.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2922
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1866
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.486150621350502e-5
allele num: 13358
num of homozygotes: 0

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

South Asian
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allele count: 0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

VQSLOD
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QD
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

FS
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SIO_000300: 0.0e0

MQRankSum
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.05e-2

DP
type: SiteQuality
SIO_000300: 8.10464e5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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
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allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 7.486150621350502e-5
allele num: 13358
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8128
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1866
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
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DP
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InbreedingCoeff
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MQ
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.436162573603332e-4
allele num: 13926
num of homozygotes: 0

Latino
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 frequency: 0.0e0
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East Asian
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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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1904
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.65e0

MQRankSum
type: SiteQuality
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DP
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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Other
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African
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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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European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
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FS
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MQRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
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MQ
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InbreedingCoeff
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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Other
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Latino
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allele frequency: 0.0e0
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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ClippingRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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MQRankSum
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QD
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ReadPosRankSum
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FS
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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Latino
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African
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European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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European (Non-Finnish)
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East Asian
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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QD
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FS
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DP
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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
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South Asian
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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DP
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FS
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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African
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South Asian
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Other
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Latino
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European (Finnish)
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DP
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VQSLOD
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
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SIO_000300: 4.713e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

BaseQRankSum
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SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 7.56732e5

VQSLOD
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SIO_000300: -1.94e-1

ClippingRankSum
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SIO_000300: -4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.03e-2

QD
type: SiteQuality
SIO_000300: 1.161e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2898
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 13272
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

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

South Asian
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allele frequency: 1.23334977799704e-4
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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MQ
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DP
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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QD
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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: 1840
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 12490
num of homozygotes: 0

African
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allele count: 1
allele frequency: 3.63901018922853e-4
allele num: 2748
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.397e1

BaseQRankSum
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SIO_000300: 1.71e-1

ClippingRankSum
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SIO_000300: 6.61e-1

FS
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SIO_000300: 7.11e-1

MQRankSum
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InbreedingCoeff
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SIO_000300: 3.82e-2

VQSLOD
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ReadPosRankSum
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SIO_000300: 5.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.17706e5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 12490
num of homozygotes: 0

South Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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MQ
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MQRankSum
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BaseQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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African
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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East Asian
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Other
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European (Finnish)
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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: 0.0e0
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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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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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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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African
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Other
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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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allele num: 1282
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Latino
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ReadPosRankSum
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DP
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ClippingRankSum
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QD
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BaseQRankSum
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MQ
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 5.091649694501018e-4
allele num: 3928
num of homozygotes: 0

East Asian
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South Asian
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allele frequency: 7.874015748031496e-4
allele num: 7620
num of homozygotes: 0

Latino
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African
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Other
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QD
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MQ
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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 frequency: 1.969020740351798e-3
allele num: 7618
num of homozygotes: 0

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

MQ
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SIO_000300: 5.956e1

ClippingRankSum
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MQRankSum
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FS
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DP
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ReadPosRankSum
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.556237218813906e-4
allele num: 3912
num of homozygotes: 0

Other
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African
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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

South Asian
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Latino
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QD
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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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

South Asian
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allele frequency: 1.314060446780552e-4
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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InbreedingCoeff
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MQRankSum
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MQ
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FS
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QD
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: 9.23e-1

ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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allele frequency: 0.0e0
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num of homozygotes: 0

African
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East 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

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 7606
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: -4.02e-2

FS
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MQ
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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DP
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SIO_000300: 2.80731e5

ClippingRankSum
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SIO_000300: -1.48e-1

ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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 (Non-Finnish)
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allele num: 3836
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European (Finnish)
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East Asian
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African
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Latino
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Other
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South Asian
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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DP
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FS
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MQ
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QD
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BaseQRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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 num: 7604
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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African
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Other
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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DP
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MQ
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ReadPosRankSum
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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Latino
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Other
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East Asian
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FS
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QD
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BaseQRankSum
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DP
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MQ
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-2

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 684
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 858
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 417
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 406
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3130
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2932
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 232
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0