19-58384936-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58384936
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58384936
    reference: chr 19
allele count: 1
allele frequency: 8.303165166561494e-6
allele num: 120436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2756G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3348G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3348G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1822G>A
  hgvsp: ENSP00000410545.1:p.Glu608Lys
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3348G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1588G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14585G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3348G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3348G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3348G>A
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu608Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

19-58384939-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58384939
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58384939
    reference: chr 19
allele count: 2
allele frequency: 1.660826094899603e-5
allele num: 120422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3345G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3345G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3345G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3345G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1819G>A
  hgvsp: ENSP00000410545.1:p.Gly607Arg
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3345G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14588G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2759G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3345G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1585G>A
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly607Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-58384944-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58384944
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58384944
    reference: chr 19
allele count: 1
allele frequency: 8.304820117596252e-6
allele num: 120412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1814A>T
  hgvsp: ENSP00000410545.1:p.Glu605Val
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3340A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1580A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3340A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3340A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14593A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3340A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3340A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3340A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2764A>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu605Val
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-58384960-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58384960
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58384960
    reference: chr 19
allele count: 2
allele frequency: 1.661515967168445e-5
allele num: 120372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3324G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3324G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3324G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3324G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3324G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1564G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2780G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1798G>C
  hgvsp: ENSP00000410545.1:p.Gly600Arg
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3324G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14609G>C
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gly600Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

19-58384966-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58384966
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58384966
    reference: chr 19
allele count: 1
allele frequency: 8.30923654734603e-6
allele num: 120348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14615C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3318C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1792C>A
  hgvsp: ENSP00000410545.1:p.His598Asn
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3318C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1558C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2786C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3318C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3318C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3318C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3318C>A
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13804
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His598Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

19-58384969-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58384969
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58384969
    reference: chr 19
allele count: 10
allele frequency: 8.310341388824253e-5
allele num: 120332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3315G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2789G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3315G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1789G>A
  hgvsp: ENSP00000410545.1:p.Val597Ile
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3315G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14618G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3315G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1555G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3315G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3315G>A
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13809
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val597Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum

19-58384970-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58384970
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58384970
    reference: chr 19
allele count: 1
allele frequency: 8.311584686736373e-6
allele num: 120314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3314C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14619C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2790C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3314C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3314C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3314C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3314C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3314C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1788C>T
  hgvsp: ENST00000435989.2:c.1788C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1554C>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg596Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

19-58384971-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58384971
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58384971
    reference: chr 19
allele count: 11
allele frequency: 9.14183135814371e-5
allele num: 120326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3313G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1787G>A
  hgvsp: ENSP00000410545.1:p.Arg596His
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14620G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3313G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3313G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3313G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1553G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3313G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2791G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3313G>A
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49026
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg596His
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

19-58384972-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58384972
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58384972
    reference: chr 19
allele count: 4
allele frequency: 3.324191805867199e-5
allele num: 120330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1552C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1786C>T
  hgvsp: ENSP00000410545.1:p.Arg596Cys
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3312C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2792C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3312C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3312C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3312C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3312C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3312C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14621C>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg596Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

19-58384990-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58384990
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58384990
    reference: chr 19
allele count: 17
allele frequency: 1.416076634735527e-4
allele num: 120050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1534C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3294C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3294C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3294C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1768C>T
  hgvsp: ENSP00000410545.1:p.His590Tyr
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3294C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3294C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14639C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3294C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2810C>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His590Tyr
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

19-58384990-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58384990
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58384990
    reference: chr 19
allele count: 2
allele frequency: 1.665972511453561e-5
allele num: 120050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3294C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1534C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3294C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14639C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3294C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2810C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1768C>A
  hgvsp: ENSP00000410545.1:p.His590Asn
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3294C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3294C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3294C>A
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His590Asn
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

19-58384993-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58384993
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58384993
    reference: chr 19
allele count: 7
allele frequency: 5.835764902042518e-5
allele num: 119950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3291G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3291G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3291G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1531G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2813G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3291G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3291G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1765G>A
  hgvsp: ENSP00000410545.1:p.Gly589Arg
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14642G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3291G>A
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly589Arg
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

19-58384994-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58384994
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58384994
    reference: chr 19
allele count: 1
allele frequency: 8.338753523123364e-6
allele num: 119922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3290C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3290C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1764C>T
  hgvsp: ENST00000435989.2:c.1764C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1530C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14643C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3290C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2814C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3290C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3290C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3290C>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13759
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48227
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile588Ile
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-58384996-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58384996
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58384996
    reference: chr 19
allele count: 6
allele frequency: 5.00283493979922e-5
allele num: 119932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3288A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3288A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3288A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2816A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1528A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3288A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1762A>G
  hgvsp: ENSP00000410545.1:p.Ile588Val
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14645A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3288A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3288A>G
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile588Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

19-58384999-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58384999
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58384999
    reference: chr 19
allele count: 1
allele frequency: 8.34278849362611e-6
allele num: 119864
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1759T>A
  hgvsp: ENSP00000410545.1:p.Ser587Thr
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3285T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3285T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1525T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2819T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3285T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3285T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14648T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3285T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3285T>A
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser587Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/19-58385012-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385012
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385012
    reference: chr 19
allele count: 1
allele frequency: 8.366660531115611e-6
allele num: 119522
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1746G>T
  hgvsp: ENST00000435989.2:c.1746G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3272G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3272G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3272G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2832G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3272G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14661G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1512G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3272G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3272G>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13631
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly582Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff

19-58385013-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385013
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385013
    reference: chr 19
allele count: 1
allele frequency: 8.370021929457456e-6
allele num: 119474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3271G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3271G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3271G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1745G>C
  hgvsp: ENSP00000410545.1:p.Gly582Ala
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3271G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3271G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1511G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2833G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3271G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14662G>C
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly582Ala
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

19-58385014-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385014
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385014
    reference: chr 19
allele count: 2
allele frequency: 1.674312694638851e-5
allele num: 119452
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3270G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3270G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14663G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2834G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3270G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1744G>C
  hgvsp: ENSP00000410545.1:p.Gly582Arg
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1510G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3270G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3270G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3270G>C
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4263
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly582Arg
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

19-58385017-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385017
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385017
    reference: chr 19
allele count: 2
allele frequency: 1.674256630056255e-5
allele num: 119456
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3267T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1741T>C
  hgvsp: ENSP00000410545.1:p.Cys581Arg
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14666T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3267T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3267T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3267T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3267T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3267T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2837T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1507T>C
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys581Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

19-58385026-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385026
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385026
    reference: chr 19
allele count: 2
allele frequency: 1.679035561973203e-5
allele num: 119116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1498T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3258T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14675T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3258T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3258T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2846T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3258T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1732T>A
  hgvsp: ENSP00000410545.1:p.Cys578Ser
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3258T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3258T>A
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys578Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

19-58385030-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385030
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385030
    reference: chr 19
allele count: 2
allele frequency: 1.681293923803759e-5
allele num: 118956
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3254T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1494T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14679T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2850T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3254T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1728T>C
  hgvsp: ENST00000435989.2:c.1728T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3254T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3254T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3254T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3254T>C
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 45523
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr576Tyr
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

19-58385032-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385032
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385032
    reference: chr 19
allele count: 1
allele frequency: 8.412126922171002e-6
allele num: 118876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1492T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2852T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14681T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3252T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3252T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1726T>C
  hgvsp: ENSP00000410545.1:p.Tyr576His
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3252T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3252T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3252T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3252T>C
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr576His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/19-58385033-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385033
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385033
    reference: chr 19
allele count: 1
allele frequency: 8.414958430105355e-6
allele num: 118836
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3251T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3251T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3251T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2853T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1725T>G
  hgvsp: ENST00000435989.2:c.1725T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3251T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3251T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1491T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3251T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14682T>G
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser575Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-58385034-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385034
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385034
    reference: chr 19
allele count: 4
allele frequency: 3.367003367003367e-5
allele num: 118800
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1724C>G
  hgvsp: ENSP00000410545.1:p.Ser575Cys
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3250C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3250C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2854C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14683C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3250C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3250C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3250C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3250C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1490C>G
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser575Cys
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD

19-58385034-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385034
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385034
    reference: chr 19
allele count: 18
allele frequency: 1.515151515151515e-4
allele num: 118800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3250C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1724C>A
  hgvsp: ENSP00000410545.1:p.Ser575Tyr
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3250C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3250C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3250C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2854C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14683C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1490C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3250C>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3250C>A
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13253
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser575Tyr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

19-58385034-GATCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385034
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385030
    reference: chr 19
allele count: 1
allele frequency: 8.417508417508417e-6
allele num: 118800
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3246_163+3249delAGAT
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1486_234+1489delAGAT
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14687_37-14684delAGAT
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1720_1723delAGAT
  hgvsp: ENSP00000410545.1:p.Arg574LeufsTer338
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3246_163+3249delAGAT
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2858_436-2855delAGAT
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3246_163+3249delAGAT
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3246_141+3249delAGAT
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3246_163+3249delAGAT
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3246_250+3249delAGAT
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35041
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg574LeufsTer338
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GATCT
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

19-58385039-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385039
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385039
    reference: chr 19
allele count: 1
allele frequency: 8.437679300685139e-6
allele num: 118516
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3245A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1719A>T
  hgvsp: ENSP00000410545.1:p.Glu573Asp
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3245A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3245A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3245A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3245A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1485A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14688A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2859A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3245A>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu573Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

19-58385055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385055
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385055
    reference: chr 19
allele count: 3
allele frequency: 2.546343450804645e-5
allele num: 117816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3229G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3229G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2875G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1703G>A
  hgvsp: ENSP00000410545.1:p.Arg568Gln
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3229G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1469G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3229G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14704G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3229G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3229G>A
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg568Gln
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

19-58385063-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385063
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385063
    reference: chr 19
allele count: 10
allele frequency: 8.511072905850511e-5
allele num: 117494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3221A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3221A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3221A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14712A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3221A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3221A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1461A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2883A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1695A>G
  hgvsp: ENST00000435989.2:c.1695A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3221A>G
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29569
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu565Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-58385065-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385065
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385065
    reference: chr 19
allele count: 1
allele frequency: 8.513536523071684e-6
allele num: 117460
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1693C>T
  hgvsp: ENST00000435989.2:c.1693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3219C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3219C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1459C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3219C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3219C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2885C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3219C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14714C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3219C>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11983
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu565Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

19-58385065-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385065
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385065
    reference: chr 19
allele count: 22
allele frequency: 1.87297803507577e-4
allele num: 117460
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3219C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3219C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3219C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3219C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3219C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1459C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14714C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2885C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3219C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1693C>G
  hgvsp: ENSP00000410545.1:p.Leu565Val
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29125
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11983
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu565Val
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

19-58385066-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385066
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385066
    reference: chr 19
allele count: 1
allele frequency: 8.505860537910621e-6
allele num: 117566
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3218T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3218T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1692T>C
  hgvsp: ENST00000435989.2:c.1692T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3218T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14715T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2886T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3218T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3218T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1458T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3218T>C
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3586
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile564Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

19-58385069-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385069
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385069
    reference: chr 19
allele count: 1
allele frequency: 8.528348229514908e-6
allele num: 117256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3215C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3215C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3215C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3215C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3215C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1689C>T
  hgvsp: ENST00000435989.2:c.1689C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1455C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2889C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14718C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3215C>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu563Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-58385070-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385070
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385070
    reference: chr 19
allele count: 1
allele frequency: 8.519193743504115e-6
allele num: 117382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3214T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14719T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3214T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3214T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1688T>G
  hgvsp: ENSP00000410545.1:p.Leu563Arg
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3214T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1454T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2890T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3214T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3214T>G
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11751
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu563Arg
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: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

19-58385077-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385077
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385077
    reference: chr 19
allele count: 1
allele frequency: 8.554466286848364e-6
allele num: 116898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1447G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3207G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14726G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3207G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1681G>A
  hgvsp: ENSP00000410545.1:p.Gly561Ser
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3207G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3207G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3207G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3207G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2897G>A
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3463
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly561Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

19-58385083-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385083
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385083
    reference: chr 19
allele count: 1
allele frequency: 8.542919628212137e-6
allele num: 117056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2903C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3201C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3201C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3201C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1675C>T
  hgvsp: ENSP00000410545.1:p.His559Tyr
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3201C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1441C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3201C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14732C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3201C>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6380
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3759
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His559Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

19-58385090-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385090
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385089
    reference: chr 19
allele count: 4
allele frequency: 3.416409012486975e-5
allele num: 117082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3193delC
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14740delC
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3193delC
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3193delC
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1667delC
  hgvsp: ENSP00000410545.1:p.Ser556PhefsTer357
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3193delC
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1433delC
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3193delC
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2911delC
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3193delC
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28659
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35632
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser556PhefsTer357
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: AG
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD

19-58385090-AGATTTCCCACACTCTCCACACTCATAAAGTCTGTCCCCAGTGTGAATTTGCTGATGGTTCCTAAGATGTCCTTTTGAACTAAAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385090
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385006
    reference: chr 19
allele count: 1
allele frequency: 8.541022531217438e-6
allele num: 117082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsp: ENSP00000410545.1:p.Ser531_Ser558del
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser531_Ser558del
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: AGATTTCCCACACTCTCCACACTCATAAAGTCTGTCCCCAGTGTGAATTTGCTGATGGTTCCTAAGATGTCCTTTTGAACTAAAT
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

19-58385092-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385092
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385092
    reference: chr 19
allele count: 4
allele frequency: 3.415592178293912e-5
allele num: 117110
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1666T>A
  hgvsp: ENSP00000410545.1:p.Ser556Thr
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3192T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3192T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3192T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1432T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2912T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3192T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14741T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3192T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3192T>A
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser556Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

19-58385094-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385094
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385094
    reference: chr 19
allele count: 1
allele frequency: 8.537085097664253e-6
allele num: 117136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14743A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3190A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1664A>G
  hgvsp: ENSP00000410545.1:p.Lys555Arg
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3190A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2914A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3190A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3190A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3190A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3190A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1430A>G
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys555Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

19-58385096-CCCACACTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385096
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385087
    reference: chr 19
allele count: 1
allele frequency: 8.54642417612471e-6
allele num: 117008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsp: ENSP00000410545.1:p.Glu552_Gly554del
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu552_Gly554del
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CCCACACTCT
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

19-58385103-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385103
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385103
    reference: chr 19
allele count: 1
allele frequency: 8.539272112445135e-6
allele num: 117106
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1655A>T
  hgvsp: ENSP00000410545.1:p.Glu552Val
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1421A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3181A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3181A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3181A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3181A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3181A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14752A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3181A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2923A>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28658
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu552Val
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-58385113-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385113
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385111
    reference: chr 19
allele count: 3
allele frequency: 2.560994348739137e-5
allele num: 117142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14764_37-14763delAT
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3169_163+3170delAT
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1409_234+1410delAT
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3169_163+3170delAT
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1643_1644delAT
  hgvsp: ENSP00000410545.1:p.Tyr548Ter
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3169_163+3170delAT
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3169_163+3170delAT
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2935_436-2934delAT
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3169_141+3170delAT
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3169_250+3170delAT
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29456
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr548Ter
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: CAT
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-58385114-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385114
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385114
    reference: chr 19
allele count: 1
allele frequency: 8.527620964303379e-6
allele num: 117266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2934T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3170T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3170T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3170T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3170T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1410T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1644T>A
  hgvsp: ENSP00000410545.1:p.Tyr548Ter
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3170T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3170T>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14763T>A
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3714
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr548Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-58385119-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385119
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385119
    reference: chr 19
allele count: 1
allele frequency: 8.524131817174421e-6
allele num: 117314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1405C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3165C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2939C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3165C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1639C>G
  hgvsp: ENSP00000410545.1:p.Leu547Val
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3165C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3165C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14768C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3165C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3165C>G
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu547Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-58385122-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385122
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385122
    reference: chr 19
allele count: 1
allele frequency: 8.522097799594348e-6
allele num: 117342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3162A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3162A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3162A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2942A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1636A>G
  hgvsp: ENSP00000410545.1:p.Arg546Gly
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3162A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3162A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1402A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3162A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14771A>G
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12706
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg546Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

19-58385123-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385123
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385123
    reference: chr 19
allele count: 3
allele frequency: 2.561431669541162e-5
allele num: 117122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14772C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3161C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3161C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1635C>T
  hgvsp: ENST00000435989.2:c.1635C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3161C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3161C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2943C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1401C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3161C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3161C>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30139
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12766
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp545Asp
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

19-58385129-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385129
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385129
    reference: chr 19
allele count: 1
allele frequency: 8.499932000543996e-6
allele num: 117648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3155T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3155T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1629T>C
  hgvsp: ENST00000435989.2:c.1629T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1395T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3155T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3155T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3155T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2949T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3155T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14778T>C
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13209
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr543Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

19-58385132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385132
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385132
    reference: chr 19
allele count: 1
allele frequency: 8.499065102838687e-6
allele num: 117660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3152C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1392C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3152C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3152C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1626C>T
  hgvsp: ENST00000435989.2:c.1626C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3152C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2952C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14781C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3152C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3152C>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His542His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

19-58385136-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385136
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385136
    reference: chr 19
allele count: 5
allele frequency: 4.241097935433525e-5
allele num: 117894
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3148T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1388T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3148T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2956T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14785T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1622T>C
  hgvsp: ENSP00000410545.1:p.Ile541Thr
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3148T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3148T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3148T>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3148T>C
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile541Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

19-58385138-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385138
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385138
    reference: chr 19
allele count: 16
allele frequency: 1.357243438576252e-4
allele num: 117886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1386A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3146A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2958A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3146A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3146A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1620A>G
  hgvsp: ENST00000435989.2:c.1620A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3146A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14787A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3146A>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3146A>G
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31559
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13581
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln540Gln
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

19-58385143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385143
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385143
    reference: chr 19
allele count: 3
allele frequency: 2.53944606216564e-5
allele num: 118136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3141C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3141C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3141C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1381C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3141C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3141C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1615C>T
  hgvsp: ENSP00000410545.1:p.Gln539Ter
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3141C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14792C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2963C>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41455
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln539Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

19-58385146-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385146
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385146
    reference: chr 19
allele count: 4
allele frequency: 3.382034632034632e-5
allele num: 118272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3138C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14795C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3138C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3138C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3138C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1612C>T
  hgvsp: ENSP00000410545.1:p.His538Tyr
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3138C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3138C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2966C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1378C>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32139
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His538Tyr
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-58385151-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385151
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385151
    reference: chr 19
allele count: 22
allele frequency: 1.855944929052287e-4
allele num: 118538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14800G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1373G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3133G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3133G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3133G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1607G>A
  hgvsp: ENSP00000410545.1:p.Arg536Lys
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2971G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3133G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3133G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3133G>A
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32413
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14886
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg536Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

19-58385160-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385160
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385160
    reference: chr 19
allele count: 1
allele frequency: 8.399408681628814e-6
allele num: 119056
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1598G>C
  hgvsp: ENSP00000410545.1:p.Gly533Ala
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3124G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3124G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2980G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3124G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3124G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3124G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14809G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1364G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3124G>C
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly533Ala
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

19-58385166-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385166
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385166
    reference: chr 19
allele count: 1
allele frequency: 8.379841453399702e-6
allele num: 119334
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1592C>T
  hgvsp: ENSP00000410545.1:p.Ser531Leu
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3118C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2986C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3118C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3118C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3118C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3118C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14815C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1358C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3118C>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34320
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser531Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-58385169-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385169
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385169
    reference: chr 19
allele count: 1
allele frequency: 8.367220576668843e-6
allele num: 119514
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1589G>A
  hgvsp: ENSP00000410545.1:p.Ser530Asn
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14818G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3115G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3115G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3115G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2989G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3115G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3115G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3115G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1355G>A
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser530Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

19-58385175-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385175
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385175
    reference: chr 19
allele count: 42
allele frequency: 3.507306889352818e-4
allele num: 119750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1349C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1583C>T
  hgvsp: ENSP00000410545.1:p.Ser528Leu
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3109C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3109C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3109C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3109C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14824C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3109C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-2995C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3109C>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16232
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34733
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 3.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser528Leu
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: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ

19-58385184-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385184
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385184
    reference: chr 19
allele count: 1
allele frequency: 8.33625102119075e-6
allele num: 119958
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3100G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3100G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-3004G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3100G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3100G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1574G>A
  hgvsp: ENSP00000410545.1:p.Cys525Tyr
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3100G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14833G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1340G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3100G>A
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys525Tyr
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-58385194-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385194
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385194
    reference: chr 19
allele count: 7
allele frequency: 5.826147751106968e-5
allele num: 120148
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1564T>G
  hgvsp: ENSP00000410545.1:p.Cys522Gly
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1330T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3090T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-3014T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3090T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3090T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14843T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3090T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3090T>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3090T>G
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys522Gly
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: A
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

19-58385195-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385195
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385195
    reference: chr 19
allele count: 1
allele frequency: 8.323068215867098e-6
allele num: 120148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14844G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3089G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3089G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3089G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-3015G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3089G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1563G>A
  hgvsp: ENST00000435989.2:c.1563G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1329G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3089G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3089G>A
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu521Glu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-58385196-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385196
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385196
    reference: chr 19
allele count: 1
allele frequency: 8.321682977165302e-6
allele num: 120168
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1562A>T
  hgvsp: ENSP00000410545.1:p.Glu521Val
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3088A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3088A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3088A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3088A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1328A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-3016A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3088A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14845A>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3088A>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu521Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

19-58385202-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385202
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385202
    reference: chr 19
allele count: 17
allele frequency: 1.413721413721414e-4
allele num: 120250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3082C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14851C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1322C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1556C>G
  hgvsp: ENSP00000410545.1:p.Pro519Arg
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3082C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3082C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3082C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3082C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3082C>G
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-3022C>G
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16968
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 34654
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro519Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-58385203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385203
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385203
    reference: chr 19
allele count: 1
allele frequency: 8.314210648840998e-6
allele num: 120276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14852C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3081C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3081C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3081C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3081C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-3023C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1321C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3081C>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1555C>T
  hgvsp: ENSP00000410545.1:p.Pro519Ser
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3081C>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16968
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro519Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum

19-58385205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385205
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385205
    reference: chr 19
allele count: 1
allele frequency: 8.312966565248474e-6
allele num: 120294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14854G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3079G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-3025G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3079G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3079G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1553G>A
  hgvsp: ENSP00000410545.1:p.Arg518Lys
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3079G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3079G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3079G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1319G>A
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg518Lys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-58385209-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385209
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385209
    reference: chr 19
allele count: 1
allele frequency: 8.309788931361144e-6
allele num: 120340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3075G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-3029G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3075G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3075G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3075G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1315G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14858G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1549G>T
  hgvsp: ENSP00000410545.1:p.Ala517Ser
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3075G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3075G>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala517Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-58385211-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385211
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385211
    reference: chr 19
allele count: 1
allele frequency: 8.30937463646486e-6
allele num: 120346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3073G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3073G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14860G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3073G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3073G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1313G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1547G>C
  hgvsp: ENSP00000410545.1:p.Gly516Ala
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3073G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3073G>C
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-3031G>C
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly516Ala
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/19-58385212-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385212
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385212
    reference: chr 19
allele count: 2
allele frequency: 1.661681621801263e-5
allele num: 120360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3072G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3072G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3072G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1312G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14861G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3072G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3072G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-3032G>T
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1546G>T
  hgvsp: ENSP00000410545.1:p.Gly516Ter
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3072G>T
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly516Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

19-58385221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58385221
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 58385221
    reference: chr 19
allele count: 1
allele frequency: 8.300408380092301e-6
allele num: 120476
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000410545
  ensembl transcript: ENST00000435989
  gene symbol: ZNF814
  hgvsc: ENST00000435989.2:c.1537G>A
  hgvsp: ENSP00000410545.1:p.Val513Ile
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469912
  ensembl transcript: ENST00000597832
  gene symbol: ZNF814
  hgvsc: ENST00000597832.1:c.163+3063G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471045
  ensembl transcript: ENST00000597348
  gene symbol: ZNF814
  hgvsc: ENST00000597348.1:c.234+1303G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470328
  ensembl transcript: ENST00000596604
  gene symbol: ZNF814
  hgvsc: ENST00000596604.1:c.163+3063G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000469704
  ensembl transcript: ENST00000595295
  gene symbol: ZNF814
  hgvsc: ENST00000595295.1:c.37-14870G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000472089
  ensembl transcript: ENST00000600634
  gene symbol: ZNF814
  hgvsc: ENST00000600634.1:c.163+3063G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl transcript: ENST00000594629
  gene symbol: ZNF814
  hgvsc: ENST00000594629.1:n.436-3041G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000471385
  ensembl transcript: ENST00000595894
  gene symbol: ZNF814
  hgvsc: ENST00000595894.1:c.163+3063G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470748
  ensembl transcript: ENST00000595048
  gene symbol: ZNF814
  hgvsc: ENST00000595048.1:c.141+3063G>A
  variant of: http://identifiers.org/hgnc/33258
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204514
  ensembl protein: ENSP00000470296
  ensembl transcript: ENST00000597342
  gene symbol: ZNF814
  hgvsc: ENST00000597342.1:c.250+3063G>A
  variant of: http://identifiers.org/hgnc/33258
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val513Ile
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49204
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 892
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4458
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 8642
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.015022330491271e-4
allele num: 9852
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.695138e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.804e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 5.278e0

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-2

QD
type: SiteQuality
SIO_000300: 1.038e1

MQ
type: SiteQuality
SIO_000300: 5.923e1

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

GenotypeQuality
all individuals: 314
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3362
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49201
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.014772384684956e-5
allele num: 66340
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: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.808e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

QD
type: SiteQuality
SIO_000300: 1.104e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.695021e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
all individuals: 3361
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 176
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4458
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49173
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9848
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: 8636
num of homozygotes: 0

European (Finnish)
type: Population
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: 66336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.991e1

DP
type: SiteQuality
SIO_000300: 1.69472e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.32e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.008e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e0

VQSLOD
type: SiteQuality
SIO_000300: -2.972e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
all individuals: 295
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4451
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49113
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01568154402895e-5
allele num: 66320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9834
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.903e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

QD
type: SiteQuality
SIO_000300: 8.99e0

DP
type: SiteQuality
SIO_000300: 1.694218e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.32e-1

FS
type: SiteQuality
SIO_000300: 4.032e0

VQSLOD
type: SiteQuality
SIO_000300: -5.185999999999999e-1

GenotypeQuality
all individuals: 887
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 474
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3362
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4439
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49056
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508113651444773e-5
allele num: 66308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.773e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.693575e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.902e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.359e0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.247e0

QD
type: SiteQuality
SIO_000300: 7.18e0

GenotypeQuality
all individuals: 1222
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4437
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49057
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.055711398666787e-4
allele num: 66306
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.035002035002035e-4
allele num: 9828
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.113e0

QD
type: SiteQuality
SIO_000300: 1.361e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

DP
type: SiteQuality
SIO_000300: 1.694121e6

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

GenotypeQuality
all individuals: 3361
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4441
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49024
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1222
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66294
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.269e0

DP
type: SiteQuality
SIO_000300: 1.693215e6

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.833e-1

QD
type: SiteQuality
SIO_000300: 1.175e1

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.460207612456747e-4
allele num: 11560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508204633204633e-5
allele num: 66304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.481086098862845e-4
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817741153659719e-4
allele num: 16504
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 1.241e1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.693737e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.52447742285766e-5
allele num: 66306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: -6.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.62e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

FS
type: SiteQuality
SIO_000300: 3.333e0

VQSLOD
type: SiteQuality
SIO_000300: 5.02e-1

DP
type: SiteQuality
SIO_000300: 1.693542e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.569373072970195e-4
allele num: 66164
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.043e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

FS
type: SiteQuality
SIO_000300: 1.227e0

QD
type: SiteQuality
SIO_000300: 1.219e1

MQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 1.688739e6

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.734304543877905e-4
allele num: 11532
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66164
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.043e0

MQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 1.227e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

QD
type: SiteQuality
SIO_000300: 1.219e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

DP
type: SiteQuality
SIO_000300: 1.688739e6

VQSLOD
type: SiteQuality
SIO_000300: 8.75e-1

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

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4373
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
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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: 103
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 135
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GenotypeQuality
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GenotypeQuality
all individuals: 104
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GenotypeQuality
all individuals: 1210
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.023122570083896e-4
allele num: 9774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.05052185751021e-5
allele num: 66110
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.243e1

MQ
type: SiteQuality
SIO_000300: 5.927e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

FS
type: SiteQuality
SIO_000300: 6.03e-1

DP
type: SiteQuality
SIO_000300: 1.688078e6

MQRankSum
type: SiteQuality
SIO_000300: -3.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

VQSLOD
type: SiteQuality
SIO_000300: 7.79e-1

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 9.25e1
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GenotypeQuality
all individuals: 215
bin: 8.75e1
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GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 40
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51290508033526e-5
allele num: 66098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.065e0

FS
type: SiteQuality
SIO_000300: 1.036e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.479e1

DP
type: SiteQuality
SIO_000300: 1.687669e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.75e1
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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
all individuals: 20
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GenotypeQuality
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GenotypeQuality
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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: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.077155824508321e-5
allele num: 66100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

QD
type: SiteQuality
SIO_000300: 1.457e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.399999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.686319e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 70
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GenotypeQuality
all individuals: 214
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66064
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.199e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.912e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.473e0

VQSLOD
type: SiteQuality
SIO_000300: -1.408e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 8.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

DP
type: SiteQuality
SIO_000300: 1.685045e6

GenotypeQuality
all individuals: 119
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
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GenotypeQuality
all individuals: 180
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GenotypeQuality
all individuals: 242
bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.707767328456984e-5
allele num: 11484
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9732
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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

MQRankSum
type: SiteQuality
SIO_000300: -8.72e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.855e1

FS
type: SiteQuality
SIO_000300: 3.654e0

ReadPosRankSum
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SIO_000300: 7.31e-1

BaseQRankSum
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VQSLOD
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SIO_000300: -2.458e0

QD
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DP
type: SiteQuality
SIO_000300: 1.67551e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 890
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 count: 1
allele frequency: 1.518833535844471e-5
allele num: 65840
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.673506e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
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MQ
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SIO_000300: 6.0e1

MQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.0e-4

ReadPosRankSum
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SIO_000300: 0.0e0

QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.038497766704142e-5
allele num: 65822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
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East Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.352e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

ClippingRankSum
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SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 1.281e0

VQSLOD
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ReadPosRankSum
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SIO_000300: -8.0e-2

InbreedingCoeff
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SIO_000300: 1.0e-4

MQRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.037943919555245e-5
allele num: 65834
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

FS
type: SiteQuality
SIO_000300: 2.227e0

DP
type: SiteQuality
SIO_000300: 1.672955e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

QD
type: SiteQuality
SIO_000300: 1.037e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
type: Population
allele count: 1
allele frequency: 8.742787200559538e-5
allele num: 11438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65626
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.820000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.084e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

FS
type: SiteQuality
SIO_000300: 5.708e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.83e-1

DP
type: SiteQuality
SIO_000300: 1.663764e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
type: Population
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 1.21758188238159e-4
allele num: 16426
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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: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
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ClippingRankSum
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MQRankSum
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QD
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DP
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VQSLOD
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SIO_000300: 9.31e-1

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

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
allele num: 65496
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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MQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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QD
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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Other
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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DP
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MQ
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65454
num of homozygotes: 0

South Asian
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allele frequency: 2.436647173489279e-4
allele num: 16416
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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MQ
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FS
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MQRankSum
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QD
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SIO_000300: 1.317e1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 18

Latino
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allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

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

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

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

African
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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: 18
allele frequency: 2.75002291685764e-4
allele num: 65454
num of homozygotes: 0

Other
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ReadPosRankSum
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VQSLOD
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DP
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ClippingRankSum
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FS
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MQRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

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 count: 0
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: 890
num of homozygotes: 0

Latino
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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: 1
allele frequency: 1.527790509365356e-5
allele num: 65454
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.532003554248246e-5
allele num: 65274
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.640677e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.274e0

MQRankSum
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QD
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 9622
num of homozygotes: 0

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

South Asian
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allele count: 3
allele frequency: 1.834189288334556e-4
allele num: 16356
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64884
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Other
type: Population
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allele frequency: 0.0e0
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

BaseQRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 10
allele frequency: 1.545069682642687e-4
allele num: 64722
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 888
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South Asian
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allele frequency: 0.0e0
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FS
type: SiteQuality
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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BaseQRankSum
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DP
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64702
num of homozygotes: 0

Other
type: Population
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allele num: 888
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East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
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allele num: 6566
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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DP
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MQ
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.672420124862284e-4
allele num: 16338
num of homozygotes: 0

Latino
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allele frequency: 3.586800573888092e-4
allele num: 11152
num of homozygotes: 0

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 frequency: 1.700102006120367e-4
allele num: 64702
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Other
type: Population
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DP
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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QD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6564
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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.543638665061283e-5
allele num: 64782
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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SIO_000300: 5.906e1

MQRankSum
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VQSLOD
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
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QD
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

East Asian
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allele frequency: 1.221896383186706e-4
allele num: 8184
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64578
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Latino
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allele frequency: 0.0e0
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QD
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 8210
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 64668
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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South Asian
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BaseQRankSum
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SIO_000300: -2.597e0

FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11060
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

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: 8150
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African
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allele count: 1
allele frequency: 1.046682018002931e-4
allele num: 9554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64382
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.316e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.44e-1

DP
type: SiteQuality
SIO_000300: 1.579863e6

InbreedingCoeff
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SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -1.14e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele num: 16302
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VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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BaseQRankSum
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FS
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InbreedingCoeff
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SIO_000300: 3.3e-3

ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele num: 16290
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European (Finnish)
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Latino
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allele frequency: 0.0e0
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African
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East Asian
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Other
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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FS
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Non-Finnish)
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allele num: 64510
num of homozygotes: 0

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

African
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Latino
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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FS
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ClippingRankSum
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BaseQRankSum
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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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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3371
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64524
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.222493887530562e-4
allele num: 8180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.32e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.579598e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 112
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.044495508669313e-4
allele num: 9574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64472
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.136e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.324e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.284e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.580093e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

QD
type: SiteQuality
SIO_000300: 2.71e0

GenotypeQuality
all individuals: 36029
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variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.223391240518718e-4
allele num: 8174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11086
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9564
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.587373e6

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.922e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.493e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.655e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2333
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3484
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.044277360066834e-4
allele num: 9576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.097221792052529e-5
allele num: 64574
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11096
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.598032e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 7.56e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.433e1

MQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 1088
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3369
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GenotypeQuality
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GenotypeQuality
all individuals: 109
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GenotypeQuality
all individuals: 213
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GenotypeQuality
all individuals: 875
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1950
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GenotypeQuality
all individuals: 1080
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variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.043405676126878e-4
allele num: 9584
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.59885e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.193e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.253e1

FS
type: SiteQuality
SIO_000300: 1.856e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.95e-1

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

GenotypeQuality
all individuals: 383
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54640769492469e-5
allele num: 64666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9588
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.119e0

DP
type: SiteQuality
SIO_000300: 1.60476e6

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e-1

QD
type: SiteQuality
SIO_000300: 1.078e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.573e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545929567448907e-5
allele num: 64686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.343e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.604e0

FS
type: SiteQuality
SIO_000300: 1.958e0

DP
type: SiteQuality
SIO_000300: 1.607333e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 760
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GenotypeQuality
all individuals: 466
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.7124773960217e-4
allele num: 11060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64564
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.616e0

QD
type: SiteQuality
SIO_000300: 1.416e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.498e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

DP
type: SiteQuality
SIO_000300: 1.60959e6

VQSLOD
type: SiteQuality
SIO_000300: 4.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.022e0

GenotypeQuality
all individuals: 1385
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 342
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GenotypeQuality
all individuals: 980
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GenotypeQuality
all individuals: 1522
bin: 3.75e1
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GenotypeQuality
all individuals: 696
bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541307028360049e-5
allele num: 64880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9618
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.855e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 7.209e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.232e0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 1.619577e6

QD
type: SiteQuality
SIO_000300: 6.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.01e-1

GenotypeQuality
all individuals: 2908
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 794
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541497101985448e-5
allele num: 64872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.598e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.238e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.521e0

DP
type: SiteQuality
SIO_000300: 1.62438e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
all individuals: 3939
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2752
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 40326
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variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11180
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.186721991701245e-4
allele num: 9640
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65012
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.34e1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

FS
type: SiteQuality
SIO_000300: 1.156e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 1.629828e6

GenotypeQuality
all individuals: 89
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3909
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1301
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variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
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variant carriers: 0

GenotypeQuality
all individuals: 3382
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 1059
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.154035508784885e-5
allele num: 64998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.952551477170994e-5
allele num: 11170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.748466257668712e-4
allele num: 16300
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

QD
type: SiteQuality
SIO_000300: 1.528e1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 1.632723e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

GenotypeQuality
all individuals: 815
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
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variant carriers: 0

GenotypeQuality
all individuals: 276
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GenotypeQuality
all individuals: 880
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variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 549
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variant carriers: 0

GenotypeQuality
all individuals: 1127
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variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 304
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variant carriers: 0

GenotypeQuality
all individuals: 478
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variant carriers: 0

GenotypeQuality
all individuals: 1058
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variant carriers: 0

GenotypeQuality
all individuals: 795
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variant carriers: 0

GenotypeQuality
all individuals: 1392
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3995
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
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: 1
allele frequency: 1.034554107179805e-4
allele num: 9666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.070970119460738e-5
allele num: 65126
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.642644e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.03e-1

FS
type: SiteQuality
SIO_000300: 3.146e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.657e0

MQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

QD
type: SiteQuality
SIO_000300: 1.189e1

GenotypeQuality
all individuals: 475
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2328
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3371
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 504
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variant carriers: 0

GenotypeQuality
all individuals: 1310
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
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variant carriers: 0

GenotypeQuality
all individuals: 211
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GenotypeQuality
all individuals: 820
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variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 4.75e1
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GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 30
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GenotypeQuality
all individuals: 1029
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variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41791
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
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variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.134781141682771e-5
allele num: 65202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.324e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

DP
type: SiteQuality
SIO_000300: 1.647987e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.315e0

GenotypeQuality
all individuals: 2065
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 826
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variant carriers: 0

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

GenotypeQuality
all individuals: 789
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variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 466
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variant carriers: 0

GenotypeQuality
all individuals: 470
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variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
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GenotypeQuality
all individuals: 211
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GenotypeQuality
all individuals: 42562
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 5.75e1
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GenotypeQuality
all individuals: 918
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4088
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3387
bin: 9.75e1
variant carriers: 22

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65352
num of homozygotes: 0

East Asian
type: Population
allele count: 22
allele frequency: 2.619047619047619e-3
allele num: 8400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 1.129e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.659561e6

QD
type: SiteQuality
SIO_000300: 1.328e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

GenotypeQuality
all individuals: 45362
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
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GenotypeQuality
all individuals: 252
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4234
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variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
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GenotypeQuality
all individuals: 192
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variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3371
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 494
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variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523600572873815e-5
allele num: 65634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 3.199e0

VQSLOD
type: SiteQuality
SIO_000300: -3.025e0

QD
type: SiteQuality
SIO_000300: 4.05e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.680725e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.16e-1

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 384
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.090875867949811e-5
allele num: 16418
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.224e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.242e1

DP
type: SiteQuality
SIO_000300: 1.692827e6

FS
type: SiteQuality
SIO_000300: 1.0956e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519295047098146e-5
allele num: 65820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-1

FS
type: SiteQuality
SIO_000300: 6.342e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
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SIO_000300: -1.739e0

BaseQRankSum
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SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 1.696558e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

MQRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

South Asian
type: Population
allele count: 42
allele frequency: 2.554123084407687e-3
allele num: 16444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.907e0

QD
type: SiteQuality
SIO_000300: 1.183e1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.704035e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-5
allele num: 66000
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 4.702e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

QD
type: SiteQuality
SIO_000300: 6.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.973e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.514e0

DP
type: SiteQuality
SIO_000300: 1.709072e6

MQ
type: SiteQuality
SIO_000300: 5.879e1

VQSLOD
type: SiteQuality
SIO_000300: -2.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.82e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513408801985592e-5
allele num: 66076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.428953121204761e-4
allele num: 16468
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.741250217656277e-4
allele num: 11486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
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FS
type: SiteQuality
SIO_000300: 1.106e0

DP
type: SiteQuality
SIO_000300: 1.713547e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

QD
type: SiteQuality
SIO_000300: 1.258e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 10008
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 902
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.513546238837597e-5
allele num: 66070
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8602
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

QD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10014
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.51336299524804e-5
allele num: 66078
num of homozygotes: 0

South Asian
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Other
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.319e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
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European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.571860816944024e-4
allele num: 66100
num of homozygotes: 0

East Asian
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allele num: 8608
num of homozygotes: 0

VQSLOD
type: SiteQuality
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FS
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MQ
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BaseQRankSum
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MQRankSum
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DP
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QD
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.9e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.85e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.583e0

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

QD
type: SiteQuality
SIO_000300: 1.079e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.71683e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.431e0

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3386
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 132
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512355948095944e-5
allele num: 66122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 1.717541e6

MQRankSum
type: SiteQuality
SIO_000300: -2.98e-1

QD
type: SiteQuality
SIO_000300: 1.336e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.917e0

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

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 226
bin: 8.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512035805007863e-5
allele num: 66136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

DP
type: SiteQuality
SIO_000300: 1.719236e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.514e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

FS
type: SiteQuality
SIO_000300: 1.743e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.505e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.148e0

GenotypeQuality
all individuals: 255
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3388
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512127260630255e-5
allele num: 66132
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.694e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.276e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.885e1

DP
type: SiteQuality
SIO_000300: 1.719212e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.248e1

GenotypeQuality
all individuals: 537
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 124
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 4609
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3388
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48104
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.21e-1

FS
type: SiteQuality
SIO_000300: 4.664e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.589e0

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.176e1

DP
type: SiteQuality
SIO_000300: 1.719992e6

MQ
type: SiteQuality
SIO_000300: 5.969e1