7-71175699-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175699
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175698
    reference: chr 7
allele count: 2
allele frequency: 1.671067143477825e-5
allele num: 119684
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1501-46delT
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.1903-46delT
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1435-46delT
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40388
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: CT
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

7-71175720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175720
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175720
    reference: chr 7
allele count: 2
allele frequency: 1.662510390689942e-5
allele num: 120300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1435-26C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1501-26C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.1903-26C>T
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-71175721-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175721
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175721
    reference: chr 7
allele count: 1
allele frequency: 8.309650828472188e-6
allele num: 120342
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1501-25C>A
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.1903-25C>A
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1435-25C>A
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 615
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8366
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

7-71175722-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175722
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175722
    reference: chr 7
allele count: 1
allele frequency: 8.305647840531562e-6
allele num: 120400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.1903-24C>G
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1435-24C>G
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1501-24C>G
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 837
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 422
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genotype quality: GenotypeQuality
  all individuals: 8382
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ

7-71175740-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175740
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175740
    reference: chr 7
allele count: 4
allele frequency: 3.311039004039468e-5
allele num: 120808
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1501-6C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.1903-6C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1435-6C>T
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11070
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8497
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1501-6C>T
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

7-71175741-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175741
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175741
    reference: chr 7
allele count: 8
allele frequency: 6.618790746930536e-5
allele num: 120868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.1903-5G>A
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1435-5G>A
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1501-5G>A
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11074
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44916
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1501-5G>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

7-71175741-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175741
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175741
    reference: chr 7
allele count: 7
allele frequency: 5.791441903564219e-5
allele num: 120868
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.1903-5G>C
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1435-5G>C
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1501-5G>C
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11074
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14237
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44916
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1501-5G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-71175752-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175752
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175752
    reference: chr 7
allele count: 1
allele frequency: 8.264189613566494e-6
allele num: 121004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.1909C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1441C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1507C>T
  hgvsp: ENSP00000329654.5:p.Arg503Cys
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg503Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

7-71175753-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175753
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175753
    reference: chr 7
allele count: 1
allele frequency: 8.263643275047103e-6
allele num: 121012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.1910G>A
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1508G>A
  hgvsp: ENSP00000329654.5:p.Arg503His
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1442G>A
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg503His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/7-71175760-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175760
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175760
    reference: chr 7
allele count: 3
allele frequency: 2.478232854759033e-5
allele num: 121054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.1917C>A
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1449C>A
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1515C>A
  hgvsp: ENST00000333538.5:c.1515C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 264
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 30
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genotype quality: GenotypeQuality
  all individuals: 8555
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genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 45276
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr505Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

7-71175776-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175776
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175776
    reference: chr 7
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1465C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.1933C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1531C>T
  hgvsp: ENSP00000329654.5:p.His511Tyr
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32255
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2011
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His511Tyr
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ

7-71175786-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175786
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175786
    reference: chr 7
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1541C>T
  hgvsp: ENSP00000329654.5:p.Ala514Val
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.1943C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1475C>T
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14220
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala514Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/7-71175796-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175796
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175796
    reference: chr 7
allele count: 14
allele frequency: 1.155611318387427e-4
allele num: 121148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.1953C>A
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1485C>A
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1551C>A
  hgvsp: ENST00000333538.5:c.1551C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr517Thr
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

7-71175796-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175796
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175796
    reference: chr 7
allele count: 6
allele frequency: 4.952619935946116e-5
allele num: 121148
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1551C>T
  hgvsp: ENST00000333538.5:c.1551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1485C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.1953C>T
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14200
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 45347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr517Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

7-71175803-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175803
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175803
    reference: chr 7
allele count: 5
allele frequency: 4.12779658218443e-5
allele num: 121130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1492C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1558C>T
  hgvsp: ENSP00000329654.5:p.Leu520Phe
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.1960C>T
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8562
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45360
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 211
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu520Phe
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

7-71175818-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175818
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175818
    reference: chr 7
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.1975C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1507C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1573C>T
  hgvsp: ENSP00000329654.5:p.Arg525Cys
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 259
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 904
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genotype quality: GenotypeQuality
  all individuals: 262
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genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45312
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg525Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-71175819-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175819
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175819
    reference: chr 7
allele count: 5
allele frequency: 4.129910463541151e-5
allele num: 121068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1508G>A
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1574G>A
  hgvsp: ENSP00000329654.5:p.Arg525His
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.1976G>A
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11073
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8531
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45309
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Arg525His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

7-71175829-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175829
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175829
    reference: chr 7
allele count: 5
allele frequency: 4.13045633281565e-5
allele num: 121052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1518G>A
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1584G>A
  hgvsp: ENST00000333538.5:c.1584G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.1986G>A
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45356
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val528Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

7-71175840-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175840
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175840
    reference: chr 7
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1595A>G
  hgvsp: ENSP00000329654.5:p.Lys532Arg
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.1997A>G
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1529A>G
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys532Arg
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-71175845-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175845
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175845
    reference: chr 7
allele count: 3
allele frequency: 2.479666732791113e-5
allele num: 120984
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1600C>T
  hgvsp: ENSP00000329654.5:p.Arg534Trp
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1534C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.2002C>T
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg534Trp
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

7-71175846-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175846
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175846
    reference: chr 7
allele count: 18
allele frequency: 1.487972224518476e-4
allele num: 120970
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1601G>A
  hgvsp: ENSP00000329654.5:p.Arg534Gln
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1535G>A
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.2003G>A
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg534Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

7-71175859-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175859
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175859
    reference: chr 7
allele count: 1
allele frequency: 8.274446853227862e-6
allele num: 120854
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1614C>T
  hgvsp: ENST00000333538.5:c.1614C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1548C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.2016C>T
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14088
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8360
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44794
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu538Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-71175860-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175860
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175860
    reference: chr 7
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1615C>G
  hgvsp: ENSP00000329654.5:p.Leu539Val
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.2017C>G
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1549C>G
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu539Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

7-71175860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175860
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175860
    reference: chr 7
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.2017C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1615C>T
  hgvsp: ENST00000333538.5:c.1615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1549C>T
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10810
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44735
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu539Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

7-71175868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175868
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175868
    reference: chr 7
allele count: 2
allele frequency: 1.657220509761029e-5
allele num: 120684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1557C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.2025C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1623C>T
  hgvsp: ENST00000333538.5:c.1623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44431
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys541Cys
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-71175870-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175870
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175870
    reference: chr 7
allele count: 8
allele frequency: 6.630530276658876e-5
allele num: 120654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.2027A>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1559A>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1625A>T
  hgvsp: ENSP00000329654.5:p.Asp542Val
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10631
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14224
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp542Val
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/7-71175872-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175872
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175872
    reference: chr 7
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1561A>C
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1627A>C
  hgvsp: ENSP00000329654.5:p.Lys543Gln
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.2029A>C
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44387
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys543Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

7-71175875-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175875
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175875
    reference: chr 7
allele count: 15
allele frequency: 1.244730640289441e-4
allele num: 120508
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1630G>A
  hgvsp: ENSP00000329654.5:p.Val544Ile
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.2032G>A
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1564G>A
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10506
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31640
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14326
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 44046
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val544Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

7-71175882-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175882
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175882
    reference: chr 7
allele count: 9
allele frequency: 7.531002627483139e-5
allele num: 119506
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1637G>C
  hgvsp: ENSP00000329654.5:p.Ser546Thr
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1571G>C
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.2039G>C
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10422
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14342
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31543
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser546Thr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

7-71175892-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175892
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175892
    reference: chr 7
allele count: 1
allele frequency: 8.350312301680083e-6
allele num: 119756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.2049C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1647C>T
  hgvsp: ENST00000333538.5:c.1647C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1581C>T
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44412
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr549Tyr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-71175896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175896
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175896
    reference: chr 7
allele count: 2
allele frequency: 1.673780232655452e-5
allele num: 119490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1585C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1651C>T
  hgvsp: ENSP00000329654.5:p.Arg551Cys
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.2053C>T
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14320
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9998
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7855
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg551Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum

7-71175897-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175897
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175897
    reference: chr 7
allele count: 3
allele frequency: 2.512226167347759e-5
allele num: 119416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.2054G>A
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1652G>A
  hgvsp: ENSP00000329654.5:p.Arg551His
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1586G>A
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31493
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 355
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7804
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genotype quality: GenotypeQuality
  all individuals: 344
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genotype quality: GenotypeQuality
  all individuals: 44047
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg551His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/7-71175903-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175903
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175903
    reference: chr 7
allele count: 4
allele frequency: 3.36802398033074e-5
allele num: 118764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.2060A>C
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1658A>C
  hgvsp: ENSP00000329654.5:p.Asn553Thr
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1592A>C
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14245
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9504
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 43303
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 261
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genotype quality: GenotypeQuality
  all individuals: 1702
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 504
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7574
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn553Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

7-71175904-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175904
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175904
    reference: chr 7
allele count: 1
allele frequency: 8.43469019382918e-6
allele num: 118558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.2061C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1659C>T
  hgvsp: ENST00000333538.5:c.1659C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1593C>T
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43019
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn553Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

7-71175907-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71175907
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 71175907
    reference: chr 7
allele count: 1
allele frequency: 8.471991595784337e-6
allele num: 118036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000498380
  gene symbol: WBSCR17
  hgvsc: ENST00000498380.2:n.2064C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185274
  ensembl transcript: ENST00000467723
  gene symbol: WBSCR17
  hgvsc: ENST00000467723.1:n.1596C>T
  variant of: http://identifiers.org/hgnc/16347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185274
  ensembl protein: ENSP00000329654
  ensembl transcript: ENST00000333538
  gene symbol: WBSCR17
  hgvsc: ENST00000333538.5:c.1662C>T
  hgvsp: ENST00000333538.5:c.1662C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7393
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Phe554Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

8-194645-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194645
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194645
    reference: chr 8
allele count: 3
allele frequency: 2.494387627837366e-5
allele num: 120270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.250G>C
  hgvsp: ENSP00000310033.4:p.Glu84Gln
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.250G>C
  hgvsp: ENSP00000429671.1:p.Glu84Gln
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.145G>C
  hgvsp: ENSP00000476799.1:p.Glu49Gln
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.511G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.250G>C
  hgvsp: ENSP00000381613.1:p.Glu84Gln
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-552G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*69G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.250G>C
  hgvsp: ENSP00000477126.1:p.Glu84Gln
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2075G>C
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11023
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu84Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

8-194647-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194647
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194647
    reference: chr 8
allele count: 1
allele frequency: 8.311999202048076e-6
allele num: 120308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2077G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.252G>C
  hgvsp: ENSP00000477126.1:p.Glu84Asp
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.252G>C
  hgvsp: ENSP00000381613.1:p.Glu84Asp
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*71G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.513G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.252G>C
  hgvsp: ENSP00000429671.1:p.Glu84Asp
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-550G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.147G>C
  hgvsp: ENSP00000476799.1:p.Glu49Asp
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.252G>C
  hgvsp: ENSP00000310033.4:p.Glu84Asp
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11023
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu84Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

8-194647-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194647
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194647
    reference: chr 8
allele count: 9
allele frequency: 7.480799281843269e-5
allele num: 120308
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.252G>T
  hgvsp: ENSP00000381613.1:p.Glu84Asp
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.252G>T
  hgvsp: ENSP00000477126.1:p.Glu84Asp
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*71G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.147G>T
  hgvsp: ENSP00000476799.1:p.Glu49Asp
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-550G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.252G>T
  hgvsp: ENSP00000429671.1:p.Glu84Asp
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.252G>T
  hgvsp: ENSP00000310033.4:p.Glu84Asp
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.513G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2077G>T
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu84Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

8-194648-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194648
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194648
    reference: chr 8
allele count: 1
allele frequency: 8.311032063961702e-6
allele num: 120322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.253A>G
  hgvsp: ENSP00000477126.1:p.Ile85Val
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.514A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2078A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.253A>G
  hgvsp: ENSP00000429671.1:p.Ile85Val
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-549A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*72A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.148A>G
  hgvsp: ENSP00000476799.1:p.Ile50Val
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.253A>G
  hgvsp: ENSP00000310033.4:p.Ile85Val
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.253A>G
  hgvsp: ENSP00000381613.1:p.Ile85Val
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35937
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile85Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

8-194650-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194650
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194650
    reference: chr 8
allele count: 1
allele frequency: 8.309788931361144e-6
allele num: 120340
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.255A>T
  hgvsp: ENST00000398612.1:c.255A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.516A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.255A>T
  hgvsp: ENST00000522866.1:c.255A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2080A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.255A>T
  hgvsp: ENST00000521145.1:c.255A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.150A>T
  hgvsp: ENST00000518320.2:c.150A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-547A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*74A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.255A>T
  hgvsp: ENST00000308811.4:c.255A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile85Ile
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

8-194653-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194653
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194653
    reference: chr 8
allele count: 1
allele frequency: 8.306613725848521e-6
allele num: 120386
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.258A>G
  hgvsp: ENST00000398612.1:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-544A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*77A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.153A>G
  hgvsp: ENST00000518320.2:c.153A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.258A>G
  hgvsp: ENST00000522866.1:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2083A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.258A>G
  hgvsp: ENST00000521145.1:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523333
  gene symbol: ZNF596
  hgvsc: ENST00000523333.1:n.519A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.258A>G
  hgvsp: ENST00000308811.4:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro86Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/8-194656-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194656
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194656
    reference: chr 8
allele count: 1
allele frequency: 8.305371914554334e-6
allele num: 120404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.261C>A
  hgvsp: ENSP00000310033.4:p.Phe87Leu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2086C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*80C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.156C>A
  hgvsp: ENSP00000476799.1:p.Phe52Leu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.261C>A
  hgvsp: ENSP00000381613.1:p.Phe87Leu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.261C>A
  hgvsp: ENSP00000429671.1:p.Phe87Leu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.261C>A
  hgvsp: ENSP00000477126.1:p.Phe87Leu
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-541C>A
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe87Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

8-194657-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194657
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194657
    reference: chr 8
allele count: 1
allele frequency: 8.304406317992327e-6
allele num: 120418
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.262A>T
  hgvsp: ENSP00000310033.4:p.Ile88Phe
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2087A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*81A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-540A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.262A>T
  hgvsp: ENSP00000477126.1:p.Ile88Phe
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.262A>T
  hgvsp: ENSP00000429671.1:p.Ile88Phe
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.157A>T
  hgvsp: ENSP00000476799.1:p.Ile53Phe
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.262A>T
  hgvsp: ENSP00000381613.1:p.Ile88Phe
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile88Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

8-194666-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194666
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194666
    reference: chr 8
allele count: 2
allele frequency: 1.65953068472236e-5
allele num: 120516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2096A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.271A>G
  hgvsp: ENSP00000310033.4:p.Ile91Val
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.271A>G
  hgvsp: ENSP00000429671.1:p.Ile91Val
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.166A>G
  hgvsp: ENSP00000476799.1:p.Ile56Val
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.271A>G
  hgvsp: ENSP00000477126.1:p.Ile91Val
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*90A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.271A>G
  hgvsp: ENSP00000381613.1:p.Ile91Val
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-531A>G
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile91Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

8-194667-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194667
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194667
    reference: chr 8
allele count: 1
allele frequency: 8.297653423611802e-6
allele num: 120516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.272T>C
  hgvsp: ENSP00000429671.1:p.Ile91Thr
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.272T>C
  hgvsp: ENSP00000477126.1:p.Ile91Thr
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.272T>C
  hgvsp: ENSP00000310033.4:p.Ile91Thr
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.167T>C
  hgvsp: ENSP00000476799.1:p.Ile56Thr
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-530T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*91T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.272T>C
  hgvsp: ENSP00000381613.1:p.Ile91Thr
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2097T>C
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile91Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

8-194670-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194670
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194670
    reference: chr 8
allele count: 2
allele frequency: 1.659392994042779e-5
allele num: 120526
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.275A>G
  hgvsp: ENSP00000477126.1:p.Tyr92Cys
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.170A>G
  hgvsp: ENSP00000476799.1:p.Tyr57Cys
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2100A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.275A>G
  hgvsp: ENSP00000310033.4:p.Tyr92Cys
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.275A>G
  hgvsp: ENSP00000381613.1:p.Tyr92Cys
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.275A>G
  hgvsp: ENSP00000429671.1:p.Tyr92Cys
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*94A>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-527A>G
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11030
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr92Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

8-194674-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194674
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194674
    reference: chr 8
allele count: 11
allele frequency: 9.125601460096233e-5
allele num: 120540
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.279G>A
  hgvsp: ENST00000398612.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.279G>A
  hgvsp: ENST00000522866.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*98G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.279G>A
  hgvsp: ENST00000308811.4:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-523G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2104G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.174G>A
  hgvsp: ENST00000518320.2:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.279G>A
  hgvsp: ENST00000521145.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22091
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln93Gln
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

8-194674-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194674
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194674
    reference: chr 8
allele count: 4
allele frequency: 3.318400530944085e-5
allele num: 120540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2104G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.279G>T
  hgvsp: ENSP00000477126.1:p.Gln93His
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.279G>T
  hgvsp: ENSP00000429671.1:p.Gln93His
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.279G>T
  hgvsp: ENSP00000310033.4:p.Gln93His
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-523G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*98G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.174G>T
  hgvsp: ENSP00000476799.1:p.Gln58His
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.279G>T
  hgvsp: ENSP00000381613.1:p.Gln93His
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11030
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln93His
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

8-194678-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194678
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194678
    reference: chr 8
allele count: 1
allele frequency: 8.298617450332775e-6
allele num: 120502
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2108G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*102G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.283G>A
  hgvsp: ENSP00000477126.1:p.Gly95Ser
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.178G>A
  hgvsp: ENSP00000476799.1:p.Gly60Ser
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-519G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.283G>A
  hgvsp: ENSP00000310033.4:p.Gly95Ser
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.283G>A
  hgvsp: ENSP00000429671.1:p.Gly95Ser
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.283G>A
  hgvsp: ENSP00000381613.1:p.Gly95Ser
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly95Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

8-194679-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194679
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194679
    reference: chr 8
allele count: 8
allele frequency: 6.638563414877021e-5
allele num: 120508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*103G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.284G>C
  hgvsp: ENSP00000381613.1:p.Gly95Ala
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2109G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.179G>C
  hgvsp: ENSP00000476799.1:p.Gly60Ala
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.284G>C
  hgvsp: ENSP00000477126.1:p.Gly95Ala
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.284G>C
  hgvsp: ENSP00000429671.1:p.Gly95Ala
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.284G>C
  hgvsp: ENSP00000310033.4:p.Gly95Ala
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-518G>C
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly95Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

8-194680-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194680
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194680
    reference: chr 8
allele count: 4
allele frequency: 3.319667369329593e-5
allele num: 120494
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*104C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.285C>T
  hgvsp: ENST00000308811.4:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.285C>T
  hgvsp: ENST00000522866.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.180C>T
  hgvsp: ENST00000518320.2:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2110C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-517C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.285C>T
  hgvsp: ENST00000398612.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.285C>T
  hgvsp: ENST00000521145.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly95Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

8-194682-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194682
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194682
    reference: chr 8
allele count: 4
allele frequency: 3.320990319313219e-5
allele num: 120446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*106C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.287C>T
  hgvsp: ENSP00000477126.1:p.Thr96Met
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-515C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.287C>T
  hgvsp: ENSP00000381613.1:p.Thr96Met
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.182C>T
  hgvsp: ENSP00000476799.1:p.Thr61Met
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.287C>T
  hgvsp: ENSP00000429671.1:p.Thr96Met
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2112C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.287C>T
  hgvsp: ENSP00000310033.4:p.Thr96Met
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr96Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

8-194683-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194683
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194683
    reference: chr 8
allele count: 9
allele frequency: 7.472352296502939e-5
allele num: 120444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.183G>A
  hgvsp: ENST00000518320.2:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.288G>A
  hgvsp: ENST00000522866.1:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.288G>A
  hgvsp: ENST00000308811.4:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2113G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.288G>A
  hgvsp: ENST00000398612.1:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*107G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-514G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.288G>A
  hgvsp: ENST00000521145.1:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11039
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35859
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr96Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

8-194685-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194685
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194685
    reference: chr 8
allele count: 1
allele frequency: 8.305647840531562e-6
allele num: 120400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.290C>G
  hgvsp: ENSP00000310033.4:p.Ser97Cys
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-512C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.290C>G
  hgvsp: ENSP00000381613.1:p.Ser97Cys
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2115C>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.290C>G
  hgvsp: ENSP00000429671.1:p.Ser97Cys
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.290C>G
  hgvsp: ENSP00000477126.1:p.Ser97Cys
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.185C>G
  hgvsp: ENSP00000476799.1:p.Ser62Cys
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*109C>G
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser97Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

8-194686-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194686
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194686
    reference: chr 8
allele count: 4
allele frequency: 3.323087147960455e-5
allele num: 120370
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.291C>T
  hgvsp: ENST00000398612.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.291C>T
  hgvsp: ENST00000521145.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*110C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.291C>T
  hgvsp: ENST00000522866.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.186C>T
  hgvsp: ENST00000518320.2:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-511C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.291C>T
  hgvsp: ENST00000308811.4:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2116C>T
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser97Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/8-194695-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194695
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194695
    reference: chr 8
allele count: 361
allele frequency: 3.000881145156196e-3
allele num: 120298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-502C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.300C>A
  hgvsp: ENSP00000429671.1:p.Ser100Arg
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.195C>A
  hgvsp: ENSP00000476799.1:p.Ser65Arg
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.300C>A
  hgvsp: ENSP00000310033.4:p.Ser100Arg
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.300C>A
  hgvsp: ENSP00000381613.1:p.Ser100Arg
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.300C>A
  hgvsp: ENSP00000477126.1:p.Ser100Arg
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2125C>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*119C>A
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 10998
  bin: 3.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 22009
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 4.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 16033
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 3.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser100Arg
num of homozygotes: 3
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

8-194706-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194706
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194706
    reference: chr 8
allele count: 2
allele frequency: 1.666944490748458e-5
allele num: 119980
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.306+5G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.306+5G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.306+5G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.306+5G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*125+5G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2131+5G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.201+5G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-491G>C
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15391
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
hgvs: c.306+5G>C
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

8-194709-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194709
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194709
    reference: chr 8
allele count: 1
allele frequency: 8.341396683460679e-6
allele num: 119884
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.201+8T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-488T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*125+8T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.306+8T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2131+8T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.306+8T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.306+8T>G
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.306+8T>G
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 2.25e1
  variant carriers: 0
hgvs: c.306+8T>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

8-194710-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194710
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194710
    reference: chr 8
allele count: 1
allele frequency: 8.345573507811457e-6
allele num: 119824
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.201+9T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-487T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.306+9T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.306+9T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*125+9T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.306+9T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2131+9T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.306+9T>C
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

8-194715-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194715
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194715
    reference: chr 8
allele count: 17
allele frequency: 1.421048232048817e-4
allele num: 119630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*125+14A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.306+14A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2131+14A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.201+14A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.306+14A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-482A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.306+14A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.306+14A>T
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21631
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5150
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

8-194717-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194717
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194717
    reference: chr 8
allele count: 2
allele frequency: 1.673892301769304e-5
allele num: 119482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2131+16G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.201+16G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-480G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*125+16G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.306+16G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.306+16G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.306+16G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.306+16G>A
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3598
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5136
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD

8-194722-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194722
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194722
    reference: chr 8
allele count: 1
allele frequency: 8.388135820695209e-6
allele num: 119216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.306+21C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.306+21C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*125+21C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-475C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.201+21C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2131+21C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.306+21C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.306+21C>T
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10778
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31544
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

8-194735-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194735
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194735
    reference: chr 8
allele count: 1
allele frequency: 8.44095551616443e-6
allele num: 118470
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-462T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2131+34T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*125+34T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.306+34T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.306+34T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.306+34T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.306+34T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.201+34T>C
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5129
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

8-194739-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194739
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194739
    reference: chr 8
allele count: 47
allele frequency: 3.976916958589294e-4
allele num: 118182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.306+38G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*125+38G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.306+38G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.201+38G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.306+38G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-458G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.306+38G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2131+38G>C
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9741
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8845
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15975
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5169
  bin: 9.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3750
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-194743-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194743
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194743
    reference: chr 8
allele count: 1
allele frequency: 8.491270973439305e-6
allele num: 117768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.306+42C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-454C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.201+42C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2131+42C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.306+42C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.306+42C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*125+42C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.306+42C>T
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11078
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4644
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

8-194746-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 194746
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 194746
    reference: chr 8
allele count: 1
allele frequency: 8.528057308545113e-6
allele num: 117260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.306+45G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.306+45G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.306+45G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.201+45G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2131+45G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.306+45G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-451G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*125+45G>A
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11014
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4944
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5921
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

8-195104-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195104
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 195104
    reference: chr 8
allele count: 2
allele frequency: 1.822755276876527e-5
allele num: 109724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.202-50A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.307-50A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.307-50A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-93A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*126-50A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2132-50A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.307-50A>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.307-50A>T
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12560
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6319
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

8-195108-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195108
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 195108
    reference: chr 8
allele count: 1
allele frequency: 9.106804604400409e-6
allele num: 109808
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.307-46G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.307-46G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-89G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.307-46G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*126-46G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.202-46G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.307-46G>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2132-46G>C
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12658
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14149
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

8-195108-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195108
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 195108
    reference: chr 8
allele count: 16
allele frequency: 1.457088736704065e-4
allele num: 109808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.307-46G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.202-46G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2132-46G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.307-46G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.307-46G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*126-46G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-89G>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.307-46G>T
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7143
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12658
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10653
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14149
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

8-195113-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195113
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 195113
    reference: chr 8
allele count: 2
allele frequency: 1.8195713089996e-5
allele num: 109916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.202-41G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*126-41G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.307-41G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-84G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.307-41G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.307-41G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2132-41G>A
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.307-41G>A
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10862
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14150
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

8-195115-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195115
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 195114
    reference: chr 8
allele count: 1
allele frequency: 9.093223729676645e-6
allele num: 109972
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.307-36delA
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.307-36delA
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2132-36delA
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*126-36delA
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.307-36delA
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.202-36delA
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.307-36delA
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-79delA
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 7154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9844
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13468
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 7.5e0
  variant carriers: 0
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: TA
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

8-195119-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195119
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 195119
    reference: chr 8
allele count: 1
allele frequency: 9.091404985726495e-6
allele num: 109994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2132-35C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-78C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.307-35C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.307-35C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.307-35C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*126-35C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.202-35C>T
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.307-35C>T
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4587
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

8-195126-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195126
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 195126
    reference: chr 8
allele count: 1
allele frequency: 9.078529278256922e-6
allele num: 110150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000318719
  ensembl transcript: ENST00000320552
  gene symbol: ZNF596
  hgvsc: ENST00000320552.2:c.140-71T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl transcript: ENST00000523418
  gene symbol: ZNF596
  hgvsc: ENST00000523418.1:n.2132-28T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000476799
  ensembl transcript: ENST00000518320
  gene symbol: ZNF596
  hgvsc: ENST00000518320.2:c.202-28T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000310033
  ensembl transcript: ENST00000308811
  gene symbol: ZNF596
  hgvsc: ENST00000308811.4:c.307-28T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000429671
  ensembl transcript: ENST00000521145
  gene symbol: ZNF596
  hgvsc: ENST00000521145.1:c.307-28T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000381613
  ensembl transcript: ENST00000398612
  gene symbol: ZNF596
  hgvsc: ENST00000398612.1:c.307-28T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000477126
  ensembl transcript: ENST00000522866
  gene symbol: ZNF596
  hgvsc: ENST00000522866.1:c.307-28T>C
  variant of: http://identifiers.org/hgnc/27268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172748
  ensembl protein: ENSP00000430650
  ensembl transcript: ENST00000523162
  gene symbol: ZNF596
  hgvsc: ENST00000523162.1:c.*126-28T>C
  variant of: http://identifiers.org/hgnc/27268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4022
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14171
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14799
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T

GenotypeQuality
all individuals: 878
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.03030303030303e-5
allele num: 66000
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.042e0

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.618425e6

QD
type: SiteQuality
SIO_000300: 1.442e1

GenotypeQuality
all individuals: 170
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16120
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.021421881137263e-5
allele num: 66194
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

FS
type: SiteQuality
SIO_000300: 1.015e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.315e0

VQSLOD
type: SiteQuality
SIO_000300: -1.535e-1

MQ
type: SiteQuality
SIO_000300: 5.878e1

QD
type: SiteQuality
SIO_000300: 1.405e1

DP
type: SiteQuality
SIO_000300: 1.640374e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

GenotypeQuality
all individuals: 941
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510437120502674e-5
allele num: 66206
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.47e-1

DP
type: SiteQuality
SIO_000300: 1.641597e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 5.896e0

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.238e1

GenotypeQuality
all individuals: 940
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509844184080203e-5
allele num: 66232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.627e1

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.229e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

DP
type: SiteQuality
SIO_000300: 1.642816e6

VQSLOD
type: SiteQuality
SIO_000300: -7.017e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

GenotypeQuality
all individuals: 44740
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
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African
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South Asian
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allele frequency: 6.098304671301378e-5
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European (Non-Finnish)
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allele frequency: 1.506704836522525e-5
allele num: 66370
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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European (Finnish)
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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ClippingRankSum
type: SiteQuality
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FS
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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South Asian
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allele frequency: 1.217433649866082e-4
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.641548565502938e-5
allele num: 11572
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Other
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European (Non-Finnish)
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allele frequency: 7.531481593058986e-5
allele num: 66388
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ClippingRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66388
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Other
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South Asian
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allele frequency: 4.261017774531288e-4
allele num: 16428
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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Latino
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DP
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
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ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 1.504981488727689e-5
allele num: 66446
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DP
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MQRankSum
type: SiteQuality
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QD
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.674e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele frequency: 8.641548565502938e-5
allele num: 11572
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European (Finnish)
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South Asian
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African
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East Asian
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Other
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European (Non-Finnish)
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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MQ
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ClippingRankSum
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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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variant carriers: 0

East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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Latino
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South Asian
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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QD
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ReadPosRankSum
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MQ
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.768e0

FS
type: SiteQuality
SIO_000300: 2.109e0

GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11574
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African
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allele frequency: 0.0e0
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Other
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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South Asian
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European (Non-Finnish)
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allele num: 66558
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East Asian
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Latino
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African
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Other
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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VQSLOD
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FS
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QD
type: SiteQuality
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BaseQRankSum
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DP
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SIO_000300: 1.662974e6

GenotypeQuality
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South Asian
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Other
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Latino
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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ClippingRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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QD
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ReadPosRankSum
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MQ
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MQRankSum
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DP
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GenotypeQuality
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variant carriers: 0

African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Other
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Latino
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South Asian
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ClippingRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
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QD
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DP
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GenotypeQuality
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variant carriers: 5

South Asian
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Other
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Latino
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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European (Finnish)
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South Asian
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Latino
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Other
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East Asian
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European (Non-Finnish)
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FS
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DP
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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Other
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African
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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FS
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InbreedingCoeff
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QD
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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variant carriers: 0

African
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European (Non-Finnish)
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South Asian
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Other
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East Asian
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European (Finnish)
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Latino
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FS
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VQSLOD
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

QD
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SIO_000300: 1.265e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.548e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.62e-1

DP
type: SiteQuality
SIO_000300: 1.660664e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Other
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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: 8614
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.50407604608489e-5
allele num: 66486
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10338
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.657699e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.076e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

Other
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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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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66470
num of homozygotes: 0

East Asian
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allele frequency: 3.482702577199907e-4
allele num: 8614
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South Asian
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allele frequency: 0.0e0
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DP
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e0

QD
type: SiteQuality
SIO_000300: 1.275e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
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allele frequency: 3.029568589432865e-4
allele num: 16504
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10336
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European (Non-Finnish)
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allele count: 13
allele frequency: 1.955946076071257e-4
allele num: 66464
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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DP
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

QD
type: SiteQuality
SIO_000300: 1.32e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.066e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66396
num of homozygotes: 0

African
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allele frequency: 9.688044952528579e-5
allele num: 10322
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East Asian
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allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11550
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6572
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.944e1

VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.232e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506296318611797e-5
allele num: 66388
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16502
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10322
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Latino
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allele num: 11550
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.648579e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.81e-1

FS
type: SiteQuality
SIO_000300: 1.5923e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.73e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
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SIO_000300: -3.099e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.431e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66388
num of homozygotes: 0

European (Finnish)
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allele frequency: 1.521606816798539e-4
allele num: 6572
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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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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BaseQRankSum
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.81e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.508295625942685e-5
allele num: 66300
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

South Asian
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allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.812e0

DP
type: SiteQuality
SIO_000300: 1.643073e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.33e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
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Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 8
allele frequency: 4.853779881082393e-4
allele num: 16482
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

QD
type: SiteQuality
SIO_000300: 1.586e1

DP
type: SiteQuality
SIO_000300: 1.641319e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 16478
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 (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
allele num: 66274
num of homozygotes: 0

Latino
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African
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allele frequency: 9.706853038245001e-5
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Other
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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MQRankSum
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MQ
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Finnish)
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num of homozygotes: 0

South 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
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num of homozygotes: 0

African
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allele frequency: 1.45800933125972e-3
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Other
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East Asian
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
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num of homozygotes: 0

African
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allele frequency: 1.96927924379677e-4
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South Asian
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num of homozygotes: 0

Other
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European (Finnish)
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allele frequency: 3.147623544224111e-4
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European (Non-Finnish)
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allele frequency: 7.618931521043489e-5
allele num: 65626
num of homozygotes: 0

East Asian
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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allele num: 65822
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African
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South Asian
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East Asian
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Other
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MQ
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
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num of homozygotes: 0

European (Finnish)
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allele frequency: 1.555209953343701e-4
allele num: 6430
num of homozygotes: 0

South Asian
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Other
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African
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East Asian
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European (Non-Finnish)
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ReadPosRankSum
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DP
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ClippingRankSum
type: SiteQuality
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QD
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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European (Finnish)
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allele frequency: 1.556662515566625e-4
allele num: 6424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.047572608417395e-5
allele num: 65626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.637e0

VQSLOD
type: SiteQuality
SIO_000300: -1.014e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

DP
type: SiteQuality
SIO_000300: 1.605153e6

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.92e0

GenotypeQuality
all individuals: 727
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532050496384361e-5
allele num: 65272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.360160490913382e-4
allele num: 8474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.891196834817012e-5
allele num: 10110
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

FS
type: SiteQuality
SIO_000300: 8.553000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.306e1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

DP
type: SiteQuality
SIO_000300: 1.583812e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.11e-1

GenotypeQuality
all individuals: 595
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534212948757288e-5
allele num: 65180
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.053e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.099e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.555e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.578883e6

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

MQ
type: SiteQuality
SIO_000300: 5.82e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 9.76e0

GenotypeQuality
all individuals: 42117
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54054720236628e-5
allele num: 64912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.094e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.527e0

QD
type: SiteQuality
SIO_000300: 1.164e1

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.562713e6

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

GenotypeQuality
all individuals: 52
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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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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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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66074
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.748906386701662e-5
allele num: 11430
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.183e1

DP
type: SiteQuality
SIO_000300: 1.886598e6

FS
type: SiteQuality
SIO_000300: 1.103e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.451e0

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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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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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variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 35939
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51308821304282e-5
allele num: 66090
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.885767e6

QD
type: SiteQuality
SIO_000300: 1.05e1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.748e0

GenotypeQuality
all individuals: 583
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 74
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
all individuals: 3101
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variant carriers: 0

GenotypeQuality
all individuals: 2027
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 6
allele frequency: 5.244755244755245e-4
allele num: 11440
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.539264639128461e-5
allele num: 66090
num of homozygotes: 0

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: 10234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

QD
type: SiteQuality
SIO_000300: 1.05e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.748e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.885767e6

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

GenotypeQuality
all individuals: 894
bin: 8.75e1
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
all individuals: 2872
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GenotypeQuality
all individuals: 1108
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512996641147457e-5
allele num: 66094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

FS
type: SiteQuality
SIO_000300: 1.076e0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.962e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.481e1

DP
type: SiteQuality
SIO_000300: 1.885657e6

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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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 9.761811792268645e-5
allele num: 10244
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.070000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.885927e6

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

FS
type: SiteQuality
SIO_000300: 3.661e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.274e1

MQ
type: SiteQuality
SIO_000300: 6.01e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-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
all individuals: 1107
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GenotypeQuality
all individuals: 541
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GenotypeQuality
all individuals: 3097
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511807214344027e-5
allele num: 66146
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.185e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.65e-1

DP
type: SiteQuality
SIO_000300: 1.886518e6

ReadPosRankSum
type: SiteQuality
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MQRankSum
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SIO_000300: 2.04e0

FS
type: SiteQuality
SIO_000300: 5.392e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.068e1

VQSLOD
type: SiteQuality
SIO_000300: -8.279e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511441613010489e-5
allele num: 66162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.338e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

FS
type: SiteQuality
SIO_000300: 2.218e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.372e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.886993e6

GenotypeQuality
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bin: 5.25e1
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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bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
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: 8618
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511258878645912e-5
allele num: 66170
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.309e0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 1.254e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.886956e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.457e0

GenotypeQuality
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66234
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.212e0

QD
type: SiteQuality
SIO_000300: 1.222e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 1.887978e6

MQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

FS
type: SiteQuality
SIO_000300: 4.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66234
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.74089226573154e-5
allele num: 10266
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.887965e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 7.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: -1.01e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66240
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.726003490401397e-5
allele num: 11460
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

VQSLOD
type: SiteQuality
SIO_000300: 6.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.155e0

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.888014e6

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: 11

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509753004408479e-5
allele num: 66236
num of homozygotes: 0

South Asian
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allele count: 9
allele frequency: 5.463154060944518e-4
allele num: 16474
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: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

BaseQRankSum
type: SiteQuality
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.893322951138797e-4
allele num: 10274
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66236
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-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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variant carriers: 0

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

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

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

Latino
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allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

South Asian
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allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

African
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East Asian
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.057146309049172e-4
allele num: 66216
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 3.288e0

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.281e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.31e-1

DP
type: SiteQuality
SIO_000300: 1.886919e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3090
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5233
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 90
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8535
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2856
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020874241005347e-5
allele num: 66206
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.214329083181542e-4
allele num: 16470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

FS
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.539e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.886158e6

QD
type: SiteQuality
SIO_000300: 1.165e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

GenotypeQuality
all individuals: 5233
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3088
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 893
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8528
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2853
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35825
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.744689144416293e-5
allele num: 10262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.022426403917065e-5
allele num: 66172
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.354e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 1.101e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

DP
type: SiteQuality
SIO_000300: 1.885221e6

GenotypeQuality
all individuals: 3087
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8523
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variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 5237
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.55629439322956e-5
allele num: 66170
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.923406743324888e-4
allele num: 10262
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.730574471800244e-5
allele num: 11454
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.17e-2

QD
type: SiteQuality
SIO_000300: 1.22e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

DP
type: SiteQuality
SIO_000300: 1.885431e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.333e0

FS
type: SiteQuality
SIO_000300: 5.31e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 5.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3087
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35739
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5228
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e-1

FS
type: SiteQuality
SIO_000300: 7.457e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.039e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.201e1

DP
type: SiteQuality
SIO_000300: 1.884095e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.316e0

GenotypeQuality
all individuals: 3085
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5228
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 116
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35639
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8509
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 3.899395593682979e-4
allele num: 10258
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: -2.2e-1

FS
type: SiteQuality
SIO_000300: 5.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.876e0

DP
type: SiteQuality
SIO_000300: 1.883967e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.187e1

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3041
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8413
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1989
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variant carriers: 0

GenotypeQuality
all individuals: 35474
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variant carriers: 0

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

GenotypeQuality
all individuals: 2817
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5472
bin: 9.75e1
variant carriers: 357

GenotypeQuality
all individuals: 1088
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 138
allele frequency: 8.387018354199586e-3
allele num: 16454
num of homozygotes: 2

Latino
type: Population
allele count: 16
allele frequency: 1.397379912663755e-3
allele num: 11450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.925687536571094e-4
allele num: 10254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.374885426214482e-3
allele num: 6546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 193
allele frequency: 2.921409542262049e-3
allele num: 66064
num of homozygotes: 1

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

DP
type: SiteQuality
SIO_000300: 1.888009e6

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

FS
type: SiteQuality
SIO_000300: 1.234e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.567e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.83e-2

QD
type: SiteQuality
SIO_000300: 1.184e1

GenotypeQuality
all individuals: 3033
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1222
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5146
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1091
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
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variant carriers: 0

GenotypeQuality
all individuals: 8385
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variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 34871
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variant carriers: 0

GenotypeQuality
all individuals: 338
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GenotypeQuality
all individuals: 2797
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variant carriers: 0

GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.090133982947625e-5
allele num: 16420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518649009840846e-5
allele num: 65848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

FS
type: SiteQuality
SIO_000300: 2.702e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.819e0

QD
type: SiteQuality
SIO_000300: 1.339e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

DP
type: SiteQuality
SIO_000300: 1.868906e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e0

GenotypeQuality
all individuals: 1090
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8350
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 34428
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 1994
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variant carriers: 0

GenotypeQuality
all individuals: 5144
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variant carriers: 1

GenotypeQuality
all individuals: 113
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GenotypeQuality
all individuals: 158
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GenotypeQuality
all individuals: 2789
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GenotypeQuality
all individuals: 870
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variant carriers: 0

GenotypeQuality
all individuals: 3032
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.093102607847916e-5
allele num: 16412
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65778
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.272e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.69e0

MQRankSum
type: SiteQuality
SIO_000300: -1.432e0

FS
type: SiteQuality
SIO_000300: 1.6011e1

DP
type: SiteQuality
SIO_000300: 1.863557e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.355e1

GenotypeQuality
all individuals: 868
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
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variant carriers: 0

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

GenotypeQuality
all individuals: 2787
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8338
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3025
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
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variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
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variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521375323292256e-5
allele num: 65730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e-1

FS
type: SiteQuality
SIO_000300: 8.76e-1

InbreedingCoeff
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SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.861747e6

QD
type: SiteQuality
SIO_000300: 8.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.76e-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
all individuals: 1978
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GenotypeQuality
all individuals: 8254
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

East Asian
type: Population
allele count: 17
allele frequency: 1.984126984126984e-3
allele num: 8568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.281e1

DP
type: SiteQuality
SIO_000300: 1.852373e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-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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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.053155436143254e-5
allele num: 65506
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.186e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.874e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e0

DP
type: SiteQuality
SIO_000300: 1.846295e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.68e-2

GenotypeQuality
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variant carriers: 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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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.828975820719482e-5
allele num: 10174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65356
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
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: 8522
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.824e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.068e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.98e0

QD
type: SiteQuality
SIO_000300: 1.44e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.826974e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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GenotypeQuality
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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: 24082
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variant carriers: 0

GenotypeQuality
all individuals: 999
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.899029895070283e-5
allele num: 10102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.735604e6

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

QD
type: SiteQuality
SIO_000300: 1.376e1

FS
type: SiteQuality
SIO_000300: 3.039e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

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
all individuals: 664
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variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 44
allele frequency: 6.797676430601903e-4
allele num: 64728
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16254
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.985308715505261e-4
allele num: 10074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.545117428924598e-4
allele num: 6472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.61e1

VQSLOD
type: SiteQuality
SIO_000300: 5.15e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

DP
type: SiteQuality
SIO_000300: 1.707773e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

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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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551205286507616e-5
allele num: 64466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

DP
type: SiteQuality
SIO_000300: 1.675629e6

MQ
type: SiteQuality
SIO_000300: 5.289e1

VQSLOD
type: SiteQuality
SIO_000300: -1.397e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.025e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 1.337e1

MQRankSum
type: SiteQuality
SIO_000300: 2.13e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2377
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559283976797854e-5
allele num: 64132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11296
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.659979e6

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
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allele frequency: 2.011667672500503e-4
allele num: 9942
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63422
num of homozygotes: 0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 187
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GenotypeQuality
all individuals: 6421
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.094331363536879e-4
allele num: 9138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63474
num of homozygotes: 0

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.826538e6

MQRankSum
type: SiteQuality
SIO_000300: -6.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.928e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.28e0

QD
type: SiteQuality
SIO_000300: 1.278e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

GenotypeQuality
all individuals: 3012
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1595
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4563
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2266
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3940
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6421
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

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

Latino
type: Population
allele count: 16
allele frequency: 1.40548137737175e-3
allele num: 11384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.826538e6

QD
type: SiteQuality
SIO_000300: 1.278e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.928e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

GenotypeQuality
all individuals: 3614
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13178
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6477
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63536
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.352941176470588e-4
allele num: 8500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9172
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.53e-1

FS
type: SiteQuality
SIO_000300: 3.723e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

QD
type: SiteQuality
SIO_000300: 1.097e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 1.836622e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

GenotypeQuality
all individuals: 691
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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: 399
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14154
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
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: 1
allele frequency: 1.088850174216028e-4
allele num: 9184
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.332000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.503e1

MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

MQ
type: SiteQuality
SIO_000300: 5.6e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

DP
type: SiteQuality
SIO_000300: 1.839702e6

GenotypeQuality
all individuals: 6539
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3650
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2079
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3049
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 375
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variant carriers: 0

GenotypeQuality
all individuals: 270
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573118550213944e-5
allele num: 63568
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9958
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: 9196
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.048e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.123e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.108e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.39e-1

DP
type: SiteQuality
SIO_000300: 1.846361e6

GenotypeQuality
all individuals: 4611
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3059
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
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variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6604
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3686
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

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