12-57005423-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005423
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005423
    reference: chr 12
allele count: 1
allele frequency: 8.59490494035136e-6
allele num: 116348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1526-6C>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1610-6C>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1520-6C>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1616-6C>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.559-6C>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.83-6C>G
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1616-6C>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-57005425-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005425
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005425
    reference: chr 12
allele count: 3
allele frequency: 2.583178342632775e-5
allele num: 116136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.559-8C>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.83-8C>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1526-8C>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1616-8C>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1520-8C>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1610-8C>G
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18499
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1616-8C>G
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD

12-57005440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005440
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005440
    reference: chr 12
allele count: 3
allele frequency: 2.61821228465204e-5
allele num: 114582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1520-23C>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1526-23C>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1616-23C>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.559-23C>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1610-23C>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.83-23C>T
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16932
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6727
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-57005446-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005446
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005446
    reference: chr 12
allele count: 23
allele frequency: 2.022013573865035e-4
allele num: 113748
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1616-29T>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1610-29T>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1526-29T>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1520-29T>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.559-29T>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.83-29T>G
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14716
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11271
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8083
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7387
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

12-57005452-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005452
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005452
    reference: chr 12
allele count: 2
allele frequency: 1.768847065482719e-5
allele num: 113068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.83-35T>C
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1610-35T>C
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.559-35T>C
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1520-35T>C
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1616-35T>C
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1526-35T>C
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10005
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20288
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7696
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4723
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3579
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4680
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS

12-57005455-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005455
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005455
    reference: chr 12
allele count: 1
allele frequency: 8.905036688751157e-6
allele num: 112296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1610-38T>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.83-38T>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1526-38T>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.559-38T>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1616-38T>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1520-38T>A
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/12-57005457-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005457
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005457
    reference: chr 12
allele count: 1
allele frequency: 8.89632226037756e-6
allele num: 112406
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1616-40T>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1526-40T>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.83-40T>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1520-40T>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.559-40T>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1610-40T>G
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5563
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6026
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

12-57005457-AAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005457
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005455
    reference: chr 12
allele count: 3
allele frequency: 2.668896678113268e-5
allele num: 112406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1610-42_1610-41delAT
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1616-42_1616-41delAT
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.559-42_559-41delAT
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1520-42_1520-41delAT
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1526-42_1526-41delAT
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.83-42_83-41delAT
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10242
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11255
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4800
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: AAT
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

12-57005462-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005462
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005462
    reference: chr 12
allele count: 1
allele frequency: 8.965554340224856e-6
allele num: 111538
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.83-45A>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1526-45A>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1520-45A>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1616-45A>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.559-45A>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1610-45A>G
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12365
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12015
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7023
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5960
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6025
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

12-57005467-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005467
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005467
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 108354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.83-50G>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1526-50G>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.559-50G>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1520-50G>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1610-50G>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1616-50G>A
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5047
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6046
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4936
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5947
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6465
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6022
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

12-57005508-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005508
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005508
    reference: chr 12
allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1609+49T>C
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1615+49T>C
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1525+49T>C
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.82+49T>C
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1519+49T>C
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.558+49T>C
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18688
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4952
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4696
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/12-57005516-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005516
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005516
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 62372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1519+41G>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1525+41G>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.558+41G>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1615+41G>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.82+41G>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1609+41G>T
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17775
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7007
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4812
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

12-57005517-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005517
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005517
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 62438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1525+40A>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1609+40A>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.558+40A>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1615+40A>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1519+40A>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.82+40A>T
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17703
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6964
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3631
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4848
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

12-57005518-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005518
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005518
    reference: chr 12
allele count: 1
allele frequency: 1.587856076725206e-5
allele num: 62978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1525+39A>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1609+39A>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.82+39A>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1519+39A>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1615+39A>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.558+39A>T
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4766
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4960
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3629
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP

12-57005528-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005528
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005528
    reference: chr 12
allele count: 4
allele frequency: 6.676904587033452e-5
allele num: 59908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1519+29G>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1609+29G>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1525+29G>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.82+29G>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.558+29G>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1615+29G>A
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16672
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23704
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7401
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4663
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-57005528-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005528
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005526
    reference: chr 12
allele count: 1
allele frequency: 1.669226146758363e-5
allele num: 59908
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.82+27_82+28delCT
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.558+27_558+28delCT
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1519+27_1519+28delCT
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1609+27_1609+28delCT
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1525+27_1525+28delCT
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1615+27_1615+28delCT
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21972
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16672
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4663
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: CAG
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/12-57005542-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005542
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005542
    reference: chr 12
allele count: 3
allele frequency: 5.055782129495433e-5
allele num: 59338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1609+15T>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1519+15T>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.558+15T>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.82+15T>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1525+15T>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1615+15T>G
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7023
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4625
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24954
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6834
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-57005547-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005547
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005547
    reference: chr 12
allele count: 16
allele frequency: 2.713520113967845e-4
allele num: 58964
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1525+10C>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1519+10C>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.558+10C>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1615+10C>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.82+10C>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1609+10C>G
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15789
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23370
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4665
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6600
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4515
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-57005548-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005548
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005548
    reference: chr 12
allele count: 15
allele frequency: 2.533869387479307e-4
allele num: 59198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1519+9C>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.558+9C>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1525+9C>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.82+9C>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1609+9C>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1615+9C>G
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23428
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15743
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 6506
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25796
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4674
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-57005556-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005556
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005556
    reference: chr 12
allele count: 1
allele frequency: 1.66616681662168e-5
allele num: 60018
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.558+1G>C
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.82+1G>C
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1525+1G>C
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1615+1G>C
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1609+1G>C
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1519+1G>C
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26991
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1615+1G>C
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

12-57005556-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005556
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005556
    reference: chr 12
allele count: 1
allele frequency: 1.66616681662168e-5
allele num: 60018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.558+1G>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.82+1G>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1525+1G>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1615+1G>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1519+1G>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1609+1G>A
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15436
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26991
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5760
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4588
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1615+1G>A
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

12-57005560-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005560
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005560
    reference: chr 12
allele count: 1
allele frequency: 1.645602948920484e-5
allele num: 60768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1606A>C
  hgvsp: ENSP00000447941.1:p.Ser536Arg
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1522A>C
  hgvsp: ENSP00000368754.3:p.Ser508Arg
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.555A>C
  hgvsp: ENSP00000447591.1:p.Ser186Arg
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.79A>C
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1516A>C
  hgvsp: ENSP00000179765.5:p.Ser506Arg
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1612A>C
  hgvsp: ENSP00000446880.1:p.Ser538Arg
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23966
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5430
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6913
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser538Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-57005581-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005581
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005581
    reference: chr 12
allele count: 1
allele frequency: 1.570598397989634e-5
allele num: 63670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1501G>A
  hgvsp: ENSP00000368754.3:p.Glu501Lys
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.534G>A
  hgvsp: ENSP00000447591.1:p.Glu179Lys
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1585G>A
  hgvsp: ENSP00000447941.1:p.Glu529Lys
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1495G>A
  hgvsp: ENSP00000179765.5:p.Glu499Lys
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.58G>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1591G>A
  hgvsp: ENSP00000446880.1:p.Glu531Lys
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14471
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8029
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27473
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu531Lys
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-57005589-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005589
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005589
    reference: chr 12
allele count: 1
allele frequency: 1.533742331288344e-5
allele num: 65200
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1583T>A
  hgvsp: ENSP00000446880.1:p.Ile528Asn
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1577T>A
  hgvsp: ENSP00000447941.1:p.Ile526Asn
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1493T>A
  hgvsp: ENSP00000368754.3:p.Ile498Asn
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.50T>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1487T>A
  hgvsp: ENSP00000179765.5:p.Ile496Asn
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.526T>A
  hgvsp: ENSP00000447591.1:p.Ile176Asn
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3973
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27884
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile528Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

12-57005599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005599
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005599
    reference: chr 12
allele count: 2
allele frequency: 2.99607514156455e-5
allele num: 66754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.516G>A
  hgvsp: ENSP00000447591.1:p.Val173Met
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1483G>A
  hgvsp: ENSP00000368754.3:p.Val495Met
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1573G>A
  hgvsp: ENSP00000446880.1:p.Val525Met
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1477G>A
  hgvsp: ENSP00000179765.5:p.Val493Met
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.40G>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1567G>A
  hgvsp: ENSP00000447941.1:p.Val523Met
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14361
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val525Met
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-57005600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005600
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005600
    reference: chr 12
allele count: 2
allele frequency: 2.983293556085919e-5
allele num: 67040
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1572C>T
  hgvsp: ENST00000551812.1:c.1572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.39C>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1482C>T
  hgvsp: ENST00000379441.3:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1566C>T
  hgvsp: ENST00000549884.1:c.1566C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.515C>T
  hgvsp: ENST00000551996.1:c.515C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1476C>T
  hgvsp: ENST00000179765.5:c.1476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8057
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8874
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4365
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3988
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp524Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-57005602-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005602
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005602
    reference: chr 12
allele count: 1
allele frequency: 1.476101910075872e-5
allele num: 67746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1564G>A
  hgvsp: ENSP00000447941.1:p.Asp522Asn
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.37G>A
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1480G>A
  hgvsp: ENSP00000368754.3:p.Asp494Asn
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.513G>A
  hgvsp: ENSP00000447591.1:p.Asp172Asn
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1474G>A
  hgvsp: ENSP00000179765.5:p.Asp492Asn
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1570G>A
  hgvsp: ENSP00000446880.1:p.Asp524Asn
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4329
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp524Asn
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

12-57005606-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005606
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005606
    reference: chr 12
allele count: 1
allele frequency: 1.443251356656275e-5
allele num: 69288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.509T>C
  hgvsp: ENST00000551996.1:c.509T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1566T>C
  hgvsp: ENST00000551812.1:c.1566T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1470T>C
  hgvsp: ENST00000179765.5:c.1470T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.33T>C
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1476T>C
  hgvsp: ENST00000379441.3:c.1476T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1560T>C
  hgvsp: ENST00000549884.1:c.1560T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4008
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4322
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr522Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-57005610-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005610
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005610
    reference: chr 12
allele count: 3
allele frequency: 4.257976609515158e-5
allele num: 70456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1556C>T
  hgvsp: ENSP00000447941.1:p.Thr519Ile
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.29C>T
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1466C>T
  hgvsp: ENSP00000179765.5:p.Thr489Ile
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1562C>T
  hgvsp: ENSP00000446880.1:p.Thr521Ile
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1472C>T
  hgvsp: ENSP00000368754.3:p.Thr491Ile
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.505C>T
  hgvsp: ENSP00000447591.1:p.Thr169Ile
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14062
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9645
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22980
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27425
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr521Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD

12-57005618-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005618
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005618
    reference: chr 12
allele count: 1
allele frequency: 1.383164126255221e-5
allele num: 72298
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1554T>C
  hgvsp: ENST00000551812.1:c.1554T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1458T>C
  hgvsp: ENST00000179765.5:c.1458T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.21T>C
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.497T>C
  hgvsp: ENST00000551996.1:c.497T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1464T>C
  hgvsp: ENST00000379441.3:c.1464T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1548T>C
  hgvsp: ENST00000549884.1:c.1548T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9972
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4306
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10945
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe518Phe
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

12-57005631-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005631
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005631
    reference: chr 12
allele count: 1
allele frequency: 1.301134589361924e-5
allele num: 76856
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1451A>G
  hgvsp: ENSP00000368754.3:p.Asp484Gly
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.484A>G
  hgvsp: ENSP00000447591.1:p.Asp162Gly
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1445A>G
  hgvsp: ENSP00000179765.5:p.Asp482Gly
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1541A>G
  hgvsp: ENSP00000446880.1:p.Asp514Gly
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076108
  ensembl transcript: ENST00000549327
  gene symbol: BAZ2A
  hgvsc: ENST00000549327.1:n.8A>G
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1535A>G
  hgvsp: ENSP00000447941.1:p.Asp512Gly
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24939
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12889
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4046
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp514Gly
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

12-57005640-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005640
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005640
    reference: chr 12
allele count: 1
allele frequency: 1.245267981669655e-5
allele num: 80304
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1532C>T
  hgvsp: ENSP00000446880.1:p.Ala511Val
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.475C>T
  hgvsp: ENSP00000447591.1:p.Ala159Val
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1436C>T
  hgvsp: ENSP00000179765.5:p.Ala479Val
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1526C>T
  hgvsp: ENSP00000447941.1:p.Ala509Val
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1442C>T
  hgvsp: ENSP00000368754.3:p.Ala481Val
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18894
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12749
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3995
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala511Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

12-57005650-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005650
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005650
    reference: chr 12
allele count: 1
allele frequency: 1.175115748901267e-5
allele num: 85098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1516G>A
  hgvsp: ENSP00000447941.1:p.Ala506Thr
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.465G>A
  hgvsp: ENSP00000447591.1:p.Ala156Thr
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1426G>A
  hgvsp: ENSP00000179765.5:p.Ala476Thr
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1522G>A
  hgvsp: ENSP00000446880.1:p.Ala508Thr
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1432G>A
  hgvsp: ENSP00000368754.3:p.Ala478Thr
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala508Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

12-57005653-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005653
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005653
    reference: chr 12
allele count: 3
allele frequency: 3.469973165540853e-5
allele num: 86456
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1429A>G
  hgvsp: ENSP00000368754.3:p.Thr477Ala
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.462A>G
  hgvsp: ENSP00000447591.1:p.Thr155Ala
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1423A>G
  hgvsp: ENSP00000179765.5:p.Thr475Ala
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1513A>G
  hgvsp: ENSP00000447941.1:p.Thr505Ala
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1519A>G
  hgvsp: ENSP00000446880.1:p.Thr507Ala
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20597
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr507Ala
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-57005667-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005667
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005667
    reference: chr 12
allele count: 2
allele frequency: 2.183692186749356e-5
allele num: 91588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1499C>A
  hgvsp: ENSP00000447941.1:p.Ala500Glu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1415C>A
  hgvsp: ENSP00000368754.3:p.Ala472Glu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1409C>A
  hgvsp: ENSP00000179765.5:p.Ala470Glu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1505C>A
  hgvsp: ENSP00000446880.1:p.Ala502Glu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.448C>A
  hgvsp: ENSP00000447591.1:p.Ala150Glu
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17991
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3560
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21259
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala502Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ

12-57005673-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005673
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005673
    reference: chr 12
allele count: 1
allele frequency: 1.072041166380789e-5
allele num: 93280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1403C>G
  hgvsp: ENSP00000179765.5:p.Ser468Cys
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.442C>G
  hgvsp: ENSP00000447591.1:p.Ser148Cys
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1493C>G
  hgvsp: ENSP00000447941.1:p.Ser498Cys
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1409C>G
  hgvsp: ENSP00000368754.3:p.Ser470Cys
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1499C>G
  hgvsp: ENSP00000446880.1:p.Ser500Cys
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3677
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17083
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser500Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-57005679-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005679
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005679
    reference: chr 12
allele count: 1456
allele frequency: 1.531599764369267e-2
allele num: 95064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1403T>A
  hgvsp: ENSP00000368754.3:p.Val468Glu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1493T>A
  hgvsp: ENSP00000446880.1:p.Val498Glu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.436T>A
  hgvsp: ENSP00000447591.1:p.Val146Glu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1487T>A
  hgvsp: ENSP00000447941.1:p.Val496Glu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1397T>A
  hgvsp: ENSP00000179765.5:p.Val466Glu
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9942
  bin: 1.25e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19432
  bin: 2.25e1
  variant carriers: 309
genotype depth: GenotypeDepth
  all individuals: 6161
  bin: 1.75e1
  variant carriers: 379
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 12125
  bin: 7.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 2.75e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 3.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 16031
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22107
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Val498Glu
num of homozygotes: 19
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

12-57005680-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005680
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005680
    reference: chr 12
allele count: 37
allele frequency: 3.893507313479954e-4
allele num: 95030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1396G>A
  hgvsp: ENSP00000179765.5:p.Val466Ile
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.435G>A
  hgvsp: ENSP00000447591.1:p.Val146Ile
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1486G>A
  hgvsp: ENSP00000447941.1:p.Val496Ile
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1492G>A
  hgvsp: ENSP00000446880.1:p.Val498Ile
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1402G>A
  hgvsp: ENSP00000368754.3:p.Val468Ile
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11925
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6197
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9923
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 19484
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15898
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 22641
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3573
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Val498Ile
num of homozygotes: 2
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

12-57005688-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005688
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005688
    reference: chr 12
allele count: 1
allele frequency: 1.022829555682841e-5
allele num: 97768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1478C>T
  hgvsp: ENSP00000447941.1:p.Ala493Val
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1484C>T
  hgvsp: ENSP00000446880.1:p.Ala495Val
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1394C>T
  hgvsp: ENSP00000368754.3:p.Ala465Val
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1388C>T
  hgvsp: ENSP00000179765.5:p.Ala463Val
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.427C>T
  hgvsp: ENSP00000447591.1:p.Ala143Val
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala495Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-57005692-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005692
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005692
    reference: chr 12
allele count: 1
allele frequency: 1.015104758811109e-5
allele num: 98512
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1474A>G
  hgvsp: ENSP00000447941.1:p.Lys492Glu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1384A>G
  hgvsp: ENSP00000179765.5:p.Lys462Glu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1390A>G
  hgvsp: ENSP00000368754.3:p.Lys464Glu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1480A>G
  hgvsp: ENSP00000446880.1:p.Lys494Glu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.423A>G
  hgvsp: ENSP00000447591.1:p.Lys142Glu
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20741
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3470
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14288
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys494Glu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-57005694-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005694
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005694
    reference: chr 12
allele count: 1
allele frequency: 1.011695196471207e-5
allele num: 98844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.421C>A
  hgvsp: ENSP00000447591.1:p.Pro141Gln
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1478C>A
  hgvsp: ENSP00000446880.1:p.Pro493Gln
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1382C>A
  hgvsp: ENSP00000179765.5:p.Pro461Gln
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1388C>A
  hgvsp: ENSP00000368754.3:p.Pro463Gln
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1472C>A
  hgvsp: ENSP00000447941.1:p.Pro491Gln
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25038
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14047
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro493Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-57005695-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005695
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005695
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 98982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1387C>A
  hgvsp: ENSP00000368754.3:p.Pro463Thr
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1381C>A
  hgvsp: ENSP00000179765.5:p.Pro461Thr
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1471C>A
  hgvsp: ENSP00000447941.1:p.Pro491Thr
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1477C>A
  hgvsp: ENSP00000446880.1:p.Pro493Thr
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.420C>A
  hgvsp: ENSP00000447591.1:p.Pro141Thr
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6359
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  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
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
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genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13893
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro493Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

12-57005704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005704
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005704
    reference: chr 12
allele count: 1
allele frequency: 9.916699722332408e-6
allele num: 100840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1462G>A
  hgvsp: ENSP00000447941.1:p.Val488Met
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1378G>A
  hgvsp: ENSP00000368754.3:p.Val460Met
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.411G>A
  hgvsp: ENSP00000447591.1:p.Val138Met
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1468G>A
  hgvsp: ENSP00000446880.1:p.Val490Met
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1372G>A
  hgvsp: ENSP00000179765.5:p.Val458Met
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12787
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3356
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val490Met
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

12-57005711-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005711
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005711
    reference: chr 12
allele count: 2
allele frequency: 1.952057468571875e-5
allele num: 102456
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1461G>A
  hgvsp: ENST00000551812.1:c.1461G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1371G>A
  hgvsp: ENST00000379441.3:c.1371G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1455G>A
  hgvsp: ENST00000549884.1:c.1455G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.404G>A
  hgvsp: ENST00000551996.1:c.404G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1365G>A
  hgvsp: ENST00000179765.5:c.1365G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11691
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr487Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

12-57005712-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005712
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005712
    reference: chr 12
allele count: 15
allele frequency: 1.457017969888295e-4
allele num: 102950
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.403C>T
  hgvsp: ENSP00000447591.1:p.Thr135Met
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1364C>T
  hgvsp: ENSP00000179765.5:p.Thr455Met
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1460C>T
  hgvsp: ENSP00000446880.1:p.Thr487Met
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1454C>T
  hgvsp: ENSP00000447941.1:p.Thr485Met
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1370C>T
  hgvsp: ENSP00000368754.3:p.Thr457Met
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23328
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11398
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28639
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr487Met
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/12-57005714-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005714
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005714
    reference: chr 12
allele count: 1
allele frequency: 9.658849437854963e-6
allele num: 103532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1362G>T
  hgvsp: ENSP00000179765.5:p.Leu454Phe
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1458G>T
  hgvsp: ENSP00000446880.1:p.Leu486Phe
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1368G>T
  hgvsp: ENSP00000368754.3:p.Leu456Phe
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1452G>T
  hgvsp: ENSP00000447941.1:p.Leu484Phe
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.401G>T
  hgvsp: ENSP00000447591.1:p.Leu134Phe
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8529
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu486Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

12-57005717-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005717
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005717
    reference: chr 12
allele count: 1
allele frequency: 9.605778836548067e-6
allele num: 104104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.398G>A
  hgvsp: ENST00000551996.1:c.398G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1359G>A
  hgvsp: ENST00000179765.5:c.1359G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1455G>A
  hgvsp: ENST00000551812.1:c.1455G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1365G>A
  hgvsp: ENST00000379441.3:c.1365G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1449G>A
  hgvsp: ENST00000549884.1:c.1449G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8745
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10611
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30021
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro485Pro
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-57005724-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005724
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005724
    reference: chr 12
allele count: 3
allele frequency: 2.830669358947746e-5
allele num: 105982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1358A>G
  hgvsp: ENSP00000368754.3:p.Glu453Gly
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1352A>G
  hgvsp: ENSP00000179765.5:p.Glu451Gly
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.391A>G
  hgvsp: ENSP00000447591.1:p.Glu131Gly
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1442A>G
  hgvsp: ENSP00000447941.1:p.Glu481Gly
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1448A>G
  hgvsp: ENSP00000446880.1:p.Glu483Gly
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32263
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu483Gly
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

12-57005726-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005726
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005726
    reference: chr 12
allele count: 1
allele frequency: 9.397966280096986e-6
allele num: 106406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1350A>C
  hgvsp: ENSP00000179765.5:p.Leu450Phe
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1440A>C
  hgvsp: ENSP00000447941.1:p.Leu480Phe
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1356A>C
  hgvsp: ENSP00000368754.3:p.Leu452Phe
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1446A>C
  hgvsp: ENSP00000446880.1:p.Leu482Phe
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.389A>C
  hgvsp: ENSP00000447591.1:p.Leu130Phe
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu482Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

12-57005729-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005729
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005729
    reference: chr 12
allele count: 1
allele frequency: 9.333059563586135e-6
allele num: 107146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1347C>G
  hgvsp: ENST00000179765.5:c.1347C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1353C>G
  hgvsp: ENST00000379441.3:c.1353C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1443C>G
  hgvsp: ENST00000551812.1:c.1443C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.386C>G
  hgvsp: ENST00000551996.1:c.386C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1437C>G
  hgvsp: ENST00000549884.1:c.1437C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26455
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32565
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8930
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser481Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-57005731-AGACTGCTGGGAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005731
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005719
    reference: chr 12
allele count: 1
allele frequency: 9.290917199345919e-6
allele num: 107632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsp: ENSP00000368754.3:p.Leu447_Val450del
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsp: ENSP00000447941.1:p.Leu475_Val478del
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsp: ENSP00000447591.1:p.Leu125_Val128del
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsp: ENSP00000446880.1:p.Leu477_Val480del
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsp: ENSP00000179765.5:p.Leu445_Val448del
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34204
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8636
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu477_Val480del
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: AGACTGCTGGGAG
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

12-57005737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005737
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005737
    reference: chr 12
allele count: 1
allele frequency: 9.210477839590318e-6
allele num: 108572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.378G>A
  hgvsp: ENSP00000447591.1:p.Ala127Thr
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1429G>A
  hgvsp: ENSP00000447941.1:p.Ala477Thr
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1345G>A
  hgvsp: ENSP00000368754.3:p.Ala449Thr
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1435G>A
  hgvsp: ENSP00000446880.1:p.Ala479Thr
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1339G>A
  hgvsp: ENSP00000179765.5:p.Ala447Thr
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7869
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala479Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-57005739-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005739
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005739
    reference: chr 12
allele count: 1
allele frequency: 9.14561650600867e-6
allele num: 109342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1427C>T
  hgvsp: ENSP00000447941.1:p.Pro476Leu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1343C>T
  hgvsp: ENSP00000368754.3:p.Pro448Leu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1433C>T
  hgvsp: ENSP00000446880.1:p.Pro478Leu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.376C>T
  hgvsp: ENSP00000447591.1:p.Pro126Leu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1337C>T
  hgvsp: ENSP00000179765.5:p.Pro446Leu
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7596
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35756
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro478Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum

12-57005740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005740
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005740
    reference: chr 12
allele count: 1
allele frequency: 9.12225648136323e-6
allele num: 109622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1426C>T
  hgvsp: ENSP00000447941.1:p.Pro476Ser
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.375C>T
  hgvsp: ENSP00000447591.1:p.Pro126Ser
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1342C>T
  hgvsp: ENSP00000368754.3:p.Pro448Ser
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1336C>T
  hgvsp: ENSP00000179765.5:p.Pro446Ser
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1432C>T
  hgvsp: ENSP00000446880.1:p.Pro478Ser
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7472
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro478Ser
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: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

12-57005743-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005743
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005743
    reference: chr 12
allele count: 1
allele frequency: 9.099015486524358e-6
allele num: 109902
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.372C>G
  hgvsp: ENSP00000447591.1:p.Leu125Val
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1429C>G
  hgvsp: ENSP00000446880.1:p.Leu477Val
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1333C>G
  hgvsp: ENSP00000179765.5:p.Leu445Val
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1339C>G
  hgvsp: ENSP00000368754.3:p.Leu447Val
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1423C>G
  hgvsp: ENSP00000447941.1:p.Leu475Val
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11242
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu477Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-57005748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005748
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005748
    reference: chr 12
allele count: 1
allele frequency: 9.018271017080606e-6
allele num: 110886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1418C>T
  hgvsp: ENSP00000447941.1:p.Ala473Val
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1328C>T
  hgvsp: ENSP00000179765.5:p.Ala443Val
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1334C>T
  hgvsp: ENSP00000368754.3:p.Ala445Val
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.367C>T
  hgvsp: ENSP00000447591.1:p.Ala123Val
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1424C>T
  hgvsp: ENSP00000446880.1:p.Ala475Val
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3584
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6594
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala475Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

12-57005751-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005751
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005751
    reference: chr 12
allele count: 1
allele frequency: 8.978272580355539e-6
allele num: 111380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1331C>T
  hgvsp: ENSP00000368754.3:p.Ser444Leu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.364C>T
  hgvsp: ENSP00000447591.1:p.Ser122Leu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1421C>T
  hgvsp: ENSP00000446880.1:p.Ser474Leu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1415C>T
  hgvsp: ENSP00000447941.1:p.Ser472Leu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1325C>T
  hgvsp: ENSP00000179765.5:p.Ser442Leu
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser474Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

12-57005753-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005753
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005753
    reference: chr 12
allele count: 1
allele frequency: 8.941184885821069e-6
allele num: 111842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1323C>T
  hgvsp: ENST00000179765.5:c.1323C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1329C>T
  hgvsp: ENST00000379441.3:c.1329C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1419C>T
  hgvsp: ENST00000551812.1:c.1419C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.362C>T
  hgvsp: ENST00000551996.1:c.362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1413C>T
  hgvsp: ENST00000549884.1:c.1413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28198
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6058
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Ser473Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

12-57005755-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005755
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005755
    reference: chr 12
allele count: 1
allele frequency: 8.91885624587503e-6
allele num: 112122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1321T>C
  hgvsp: ENSP00000179765.5:p.Ser441Pro
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.360T>C
  hgvsp: ENSP00000447591.1:p.Ser121Pro
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1327T>C
  hgvsp: ENSP00000368754.3:p.Ser443Pro
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1411T>C
  hgvsp: ENSP00000447941.1:p.Ser471Pro
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1417T>C
  hgvsp: ENSP00000446880.1:p.Ser473Pro
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser473Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

12-57005759-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005759
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005759
    reference: chr 12
allele count: 2
allele frequency: 1.768847065482719e-5
allele num: 113068
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1413A>G
  hgvsp: ENST00000551812.1:c.1413A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1323A>G
  hgvsp: ENST00000379441.3:c.1323A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1317A>G
  hgvsp: ENST00000179765.5:c.1317A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.356A>G
  hgvsp: ENST00000551996.1:c.356A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1407A>G
  hgvsp: ENST00000549884.1:c.1407A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro471Pro
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-57005761-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005761
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005761
    reference: chr 12
allele count: 1
allele frequency: 8.815077308227993e-6
allele num: 113442
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1315C>G
  hgvsp: ENSP00000179765.5:p.Pro439Ala
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.354C>G
  hgvsp: ENSP00000447591.1:p.Pro119Ala
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1411C>G
  hgvsp: ENSP00000446880.1:p.Pro471Ala
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1321C>G
  hgvsp: ENSP00000368754.3:p.Pro441Ala
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1405C>G
  hgvsp: ENSP00000447941.1:p.Pro469Ala
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 859
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4987
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro471Ala
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

12-57005767-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005767
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005767
    reference: chr 12
allele count: 1
allele frequency: 8.730422028600862e-6
allele num: 114542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1399G>C
  hgvsp: ENSP00000447941.1:p.Val467Leu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1315G>C
  hgvsp: ENSP00000368754.3:p.Val439Leu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1405G>C
  hgvsp: ENSP00000446880.1:p.Val469Leu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1309G>C
  hgvsp: ENSP00000179765.5:p.Val437Leu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.348G>C
  hgvsp: ENSP00000447591.1:p.Val117Leu
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13437
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val469Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-57005768-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005768
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005768
    reference: chr 12
allele count: 3
allele frequency: 2.612921769122232e-5
allele num: 114814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.347G>T
  hgvsp: ENST00000551996.1:c.347G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1308G>T
  hgvsp: ENST00000179765.5:c.1308G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1398G>T
  hgvsp: ENST00000549884.1:c.1398G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1314G>T
  hgvsp: ENST00000379441.3:c.1314G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1404G>T
  hgvsp: ENST00000551812.1:c.1404G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30681
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 4067
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val468Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

12-57005770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005770
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005770
    reference: chr 12
allele count: 1
allele frequency: 8.689607229753214e-6
allele num: 115080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.345G>A
  hgvsp: ENSP00000447591.1:p.Val116Met
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1396G>A
  hgvsp: ENSP00000447941.1:p.Val466Met
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1312G>A
  hgvsp: ENSP00000368754.3:p.Val438Met
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1402G>A
  hgvsp: ENSP00000446880.1:p.Val468Met
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1306G>A
  hgvsp: ENSP00000179765.5:p.Val436Met
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 4248
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genotype depth: GenotypeDepth
  all individuals: 1273
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genotype depth: GenotypeDepth
  all individuals: 30670
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genotype depth: GenotypeDepth
  all individuals: 109
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 988
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genotype quality: GenotypeQuality
  all individuals: 499
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genotype quality: GenotypeQuality
  all individuals: 800
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 73
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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: 696
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val468Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

12-57005772-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005772
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005772
    reference: chr 12
allele count: 1
allele frequency: 8.664760419374404e-6
allele num: 115410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1310C>T
  hgvsp: ENSP00000368754.3:p.Ser437Leu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.343C>T
  hgvsp: ENSP00000447591.1:p.Ser115Leu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1394C>T
  hgvsp: ENSP00000447941.1:p.Ser465Leu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1304C>T
  hgvsp: ENSP00000179765.5:p.Ser435Leu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1400C>T
  hgvsp: ENSP00000446880.1:p.Ser467Leu
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
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genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 30968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 115
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 509
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genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser467Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

12-57005777-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005777
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005777
    reference: chr 12
allele count: 2
allele frequency: 1.723276292888039e-5
allele num: 116058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1389C>A
  hgvsp: ENST00000549884.1:c.1389C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.338C>A
  hgvsp: ENST00000551996.1:c.338C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1299C>A
  hgvsp: ENST00000179765.5:c.1299C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1395C>A
  hgvsp: ENST00000551812.1:c.1395C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1305C>A
  hgvsp: ENST00000379441.3:c.1305C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 128
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 96
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genotype depth: GenotypeDepth
  all individuals: 14487
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
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
  all individuals: 959
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val465Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

12-57005797-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005797
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005797
    reference: chr 12
allele count: 1
allele frequency: 8.442238206193226e-6
allele num: 118452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.318A>T
  hgvsp: ENSP00000447591.1:p.Thr107Ser
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1285A>T
  hgvsp: ENSP00000368754.3:p.Thr429Ser
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1369A>T
  hgvsp: ENSP00000447941.1:p.Thr457Ser
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1375A>T
  hgvsp: ENSP00000446880.1:p.Thr459Ser
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1279A>T
  hgvsp: ENSP00000179765.5:p.Thr427Ser
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15997
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4363
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr459Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

12-57005798-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005798
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005798
    reference: chr 12
allele count: 1
allele frequency: 8.43554400823309e-6
allele num: 118546
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1284T>C
  hgvsp: ENST00000379441.3:c.1284T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1278T>C
  hgvsp: ENST00000179765.5:c.1278T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1368T>C
  hgvsp: ENST00000549884.1:c.1368T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.317T>C
  hgvsp: ENST00000551996.1:c.317T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1374T>C
  hgvsp: ENST00000551812.1:c.1374T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16063
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser458Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

12-57005799-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005799
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005799
    reference: chr 12
allele count: 1
allele frequency: 8.428718329090879e-6
allele num: 118642
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1283C>G
  hgvsp: ENSP00000368754.3:p.Ser428Cys
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1367C>G
  hgvsp: ENSP00000447941.1:p.Ser456Cys
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1277C>G
  hgvsp: ENSP00000179765.5:p.Ser426Cys
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.316C>G
  hgvsp: ENSP00000447591.1:p.Ser106Cys
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1373C>G
  hgvsp: ENSP00000446880.1:p.Ser458Cys
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16155
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser458Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-57005806-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005806
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005806
    reference: chr 12
allele count: 2
allele frequency: 1.679091947075022e-5
allele num: 119112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1360G>A
  hgvsp: ENSP00000447941.1:p.Ala454Thr
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.309G>A
  hgvsp: ENSP00000447591.1:p.Ala104Thr
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1270G>A
  hgvsp: ENSP00000179765.5:p.Ala424Thr
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1276G>A
  hgvsp: ENSP00000368754.3:p.Ala426Thr
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1366G>A
  hgvsp: ENSP00000446880.1:p.Ala456Thr
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4830
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala456Thr
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-57005820-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005820
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005820
    reference: chr 12
allele count: 1
allele frequency: 8.339309838717748e-6
allele num: 119914
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1352C>T
  hgvsp: ENSP00000446880.1:p.Pro451Leu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.295C>T
  hgvsp: ENSP00000447591.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1262C>T
  hgvsp: ENSP00000368754.3:p.Pro421Leu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1256C>T
  hgvsp: ENSP00000179765.5:p.Pro419Leu
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1346C>T
  hgvsp: ENSP00000447941.1:p.Pro449Leu
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro451Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

12-57005821-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005821
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005821
    reference: chr 12
allele count: 5
allele frequency: 4.169168167567207e-5
allele num: 119928
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1261C>T
  hgvsp: ENSP00000368754.3:p.Pro421Ser
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1351C>T
  hgvsp: ENSP00000446880.1:p.Pro451Ser
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.294C>T
  hgvsp: ENSP00000447591.1:p.Pro99Ser
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1255C>T
  hgvsp: ENSP00000179765.5:p.Pro419Ser
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1345C>T
  hgvsp: ENSP00000447941.1:p.Pro449Ser
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32904
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17339
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49201
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro451Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-57005821-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005821
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005821
    reference: chr 12
allele count: 1
allele frequency: 8.338336335134414e-6
allele num: 119928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000179765
  ensembl transcript: ENST00000179765
  gene symbol: BAZ2A
  hgvsc: ENST00000179765.5:c.1255C>G
  hgvsp: ENSP00000179765.5:p.Pro419Ala
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447591
  ensembl transcript: ENST00000551996
  gene symbol: BAZ2A
  hgvsc: ENST00000551996.1:c.294C>G
  hgvsp: ENSP00000447591.1:p.Pro99Ala
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000446880
  ensembl transcript: ENST00000551812
  gene symbol: BAZ2A
  hgvsc: ENST00000551812.1:c.1351C>G
  hgvsp: ENSP00000446880.1:p.Pro451Ala
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000368754
  ensembl transcript: ENST00000379441
  gene symbol: BAZ2A
  hgvsc: ENST00000379441.3:c.1261C>G
  hgvsp: ENSP00000368754.3:p.Pro421Ala
  variant of: http://identifiers.org/hgnc/962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076108
  ensembl protein: ENSP00000447941
  ensembl transcript: ENST00000549884
  gene symbol: BAZ2A
  hgvsc: ENST00000549884.1:c.1345C>G
  hgvsp: ENSP00000447941.1:p.Pro449Ala
  variant of: http://identifiers.org/hgnc/962
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4589
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro451Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

12-57005827-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57005827
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57005827
allele count: 28
allele frequency: 2.332128400326498e-4
allele num: 120062
alternate allele: C
canonical: true
consequence: missense
filter: PASS
hgvs: p.Ile449Val
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 6134
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6042
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4527
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1274
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526391305675123e-5
allele num: 65514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9666
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.768146e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.36e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
all individuals: 4685
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6044
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33920
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.0351966873706e-4
allele num: 9660
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529098749197223e-5
allele num: 65398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.764241893076249e-5
allele num: 11410
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.247e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.76357e6

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.771e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

QD
type: SiteQuality
SIO_000300: 8.65e0

GenotypeQuality
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bin: 9.25e1
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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bin: 9.75e1
variant carriers: 3

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.625917473632271e-5
allele num: 64852
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12880
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

FS
type: SiteQuality
SIO_000300: 3.08e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.371e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.587e0

GenotypeQuality
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bin: 3.75e1
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: 23

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

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

South Asian
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allele count: 23
allele frequency: 1.84976676853788e-3
allele num: 12434
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64602
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

DP
type: SiteQuality
SIO_000300: 1.648611e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e-1

InbreedingCoeff
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SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 6.43e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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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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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12098
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9522
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.107230525432682e-5
allele num: 64366
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.003e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.229999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.92e-1

DP
type: SiteQuality
SIO_000300: 1.616849e6

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561426519268003e-5
allele num: 64044
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9504
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.057e0

FS
type: SiteQuality
SIO_000300: 1.939e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.590408e6

MQRankSum
type: SiteQuality
SIO_000300: -2.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.367e0

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
all individuals: 580
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559819060988925e-5
allele num: 64110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9508
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.452e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

FS
type: SiteQuality
SIO_000300: 3.178e0

DP
type: SiteQuality
SIO_000300: 1.589355e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 304
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11802
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: 0
allele frequency: 0.0e0
allele num: 11214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.679457182966776e-5
allele num: 64110
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

DP
type: SiteQuality
SIO_000300: 1.589355e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11128
num of homozygotes: 0

South 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: 814
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567840456555141e-5
allele num: 63782
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

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

VQSLOD
type: SiteQuality
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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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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10776
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8062
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

East Asian
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allele num: 5078
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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VQSLOD
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MQRankSum
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

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

Latino
type: Population
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allele frequency: 0.0e0
allele num: 4176
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4810
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.107e0

VQSLOD
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QD
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InbreedingCoeff
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4818
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 37322
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4828
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.788e0

MQ
type: SiteQuality
SIO_000300: 4.31e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.735e0

FS
type: SiteQuality
SIO_000300: 5.5084e1

MQRankSum
type: SiteQuality
SIO_000300: -7.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

QD
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.735e0

DP
type: SiteQuality
SIO_000300: 8.24063e5

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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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4330
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.654068687297627e-5
allele num: 37678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.01e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.2583e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.36e-2

QD
type: SiteQuality
SIO_000300: 1.041e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

DP
type: SiteQuality
SIO_000300: 8.22403e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4668
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 35926
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4658
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3882
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 1.011633788568538e-3
allele num: 3954
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 8.12091e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.203e1

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.783499415465123e-5
allele num: 35926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4668
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.12091e5

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

QD
type: SiteQuality
SIO_000300: 1.203e1

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-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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variant carriers: 3

GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3826
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.724409448818898e-4
allele num: 6350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4628
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 3.551e0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

QD
type: SiteQuality
SIO_000300: 1.269e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

DP
type: SiteQuality
SIO_000300: 8.14612e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 22

GenotypeQuality
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GenotypeQuality
all individuals: 2364
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 4.214963119072708e-3
allele num: 3796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35368
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 1.474e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.20935e5

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.507e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5339
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 15
allele frequency: 3.941145559642669e-3
allele num: 3806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4636
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.87e0

FS
type: SiteQuality
SIO_000300: 9.63e-1

QD
type: SiteQuality
SIO_000300: 1.513e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.21e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 8.22138e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4608
num of homozygotes: 0

South Asian
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allele frequency: 2.579979360165118e-4
allele num: 3876
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 35962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3942
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-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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bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3942
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.551831160769708e-4
allele num: 6444
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4702
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35962
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.906e1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 8.36959e5

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.890000000000001e0

MQRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -1.1e-1

FS
type: SiteQuality
SIO_000300: 1.377e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-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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bin: 1.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4776
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 3972
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4634
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.470355731225296e-4
allele num: 4048
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.44853e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.021e0

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 519
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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: 5034
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4274
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4760
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.247191011235955e-4
allele num: 4450
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.181e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.445e0

VQSLOD
type: SiteQuality
SIO_000300: 8.599999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

QD
type: SiteQuality
SIO_000300: 7.8e0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

DP
type: SiteQuality
SIO_000300: 8.82589e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-1

GenotypeQuality
all individuals: 935
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 521
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.576124478334793e-5
allele num: 38818
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.887e1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.728e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.19e-1

DP
type: SiteQuality
SIO_000300: 8.99071e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.91e-1

QD
type: SiteQuality
SIO_000300: 9.85e0

GenotypeQuality
all individuals: 1493
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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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
all individuals: 867
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.461560947091494e-4
allele num: 6842
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.524869969196586e-5
allele num: 39606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4792
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

DP
type: SiteQuality
SIO_000300: 9.19038e5

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.067e1

FS
type: SiteQuality
SIO_000300: 7.79e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.186e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

GenotypeQuality
all individuals: 210
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variant carriers: 0

GenotypeQuality
all individuals: 414
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variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.765060240963856e-4
allele num: 5312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6842
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4894
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

QD
type: SiteQuality
SIO_000300: 1.028e1

FS
type: SiteQuality
SIO_000300: 9.25e-1

DP
type: SiteQuality
SIO_000300: 9.21494e5

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.082e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-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
all individuals: 1881
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4872
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4928
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40188
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.86706497386109e-4
allele num: 5356
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.52e-1

QD
type: SiteQuality
SIO_000300: 6.63e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.697e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

DP
type: SiteQuality
SIO_000300: 9.27692e5

MQ
type: SiteQuality
SIO_000300: 5.89e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

GenotypeQuality
all individuals: 1311
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1381
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variant carriers: 0

GenotypeQuality
all individuals: 286
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variant carriers: 0

GenotypeQuality
all individuals: 496
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GenotypeQuality
all individuals: 212
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GenotypeQuality
all individuals: 415
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.834189288334556e-4
allele num: 5452
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.88e-1

DP
type: SiteQuality
SIO_000300: 9.40499e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.474e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.26e-1

QD
type: SiteQuality
SIO_000300: 1.754e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 3978
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.81278275098662e-5
allele num: 41556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.422070534698521e-4
allele num: 7032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4990
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.278e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

FS
type: SiteQuality
SIO_000300: 1.7329e1

DP
type: SiteQuality
SIO_000300: 9.53046e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.248e0

GenotypeQuality
all individuals: 626
bin: 1.25e1
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
all individuals: 287
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GenotypeQuality
all individuals: 1812
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.402524544179523e-4
allele num: 7130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5320
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.198e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

FS
type: SiteQuality
SIO_000300: 1.0942e1

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

DP
type: SiteQuality
SIO_000300: 9.69435e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e0

GenotypeQuality
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bin: 7.5e0
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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bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.722949689869056e-4
allele num: 5804
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5674
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 1.822e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.008e0

MQRankSum
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

QD
type: SiteQuality
SIO_000300: 1.054e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.694e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

DP
type: SiteQuality
SIO_000300: 1.009216e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1719
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GenotypeQuality
all individuals: 1331
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.352082206598161e-4
allele num: 7396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5908
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9242
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.54e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

FS
type: SiteQuality
SIO_000300: 1.209e0

VQSLOD
type: SiteQuality
SIO_000300: 9.350000000000001e-1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.216e1

DP
type: SiteQuality
SIO_000300: 1.043057e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 605
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GenotypeQuality
all individuals: 18016
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.319664492078285e-5
allele num: 10730
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5376
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

QD
type: SiteQuality
SIO_000300: 2.209e1

DP
type: SiteQuality
SIO_000300: 1.090775e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: -3.788e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.825e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.431e0

MQRankSum
type: SiteQuality
SIO_000300: -4.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1084
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3714
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 7.5e0
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.313025210084034e-4
allele num: 7616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.093998198640793e-5
allele num: 48852
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

FS
type: SiteQuality
SIO_000300: 2.465e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

DP
type: SiteQuality
SIO_000300: 1.106211e6

QD
type: SiteQuality
SIO_000300: 1.388e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.72e-1

GenotypeQuality
all individuals: 165
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.557544757033248e-4
allele num: 7820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

QD
type: SiteQuality
SIO_000300: 1.056e1

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.014e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

FS
type: SiteQuality
SIO_000300: 3.779e0

DP
type: SiteQuality
SIO_000300: 1.159256e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 292
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 7.5e0
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.808839606434484e-5
allele num: 12806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5628
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7924
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.435e0

FS
type: SiteQuality
SIO_000300: 1.4564e1

DP
type: SiteQuality
SIO_000300: 1.17362e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

QD
type: SiteQuality
SIO_000300: 1.222e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeQuality
all individuals: 174
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3470
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2260
bin: 6.75e1
variant carriers: 11

GenotypeQuality
all individuals: 3085
bin: 9.75e1
variant carriers: 1377

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 12

South Asian
type: Population
allele count: 114
allele frequency: 8.716929194066371e-3
allele num: 13078
num of homozygotes: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6648
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 1.882530120481928e-3
allele num: 7968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1150
allele frequency: 2.150416993904035e-2
allele num: 53478
num of homozygotes: 13

European (Finnish)
type: Population
allele count: 143
allele frequency: 2.492157546183339e-2
allele num: 5738
num of homozygotes: 2

Latino
type: Population
allele count: 22
allele frequency: 2.964160603610887e-3
allele num: 7422
num of homozygotes: 0

Other
type: Population
allele count: 12
allele frequency: 1.639344262295082e-2
allele num: 732
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

QD
type: SiteQuality
SIO_000300: 1.324e1

DP
type: SiteQuality
SIO_000300: 1.202469e6

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
all individuals: 669
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2325
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.60873466945857e-5
allele num: 53488
num of homozygotes: 0

South Asian
type: Population
allele count: 34
allele frequency: 2.60257195345989e-3
allele num: 13064
num of homozygotes: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7958
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5734
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

DP
type: SiteQuality
SIO_000300: 1.20078e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

QD
type: SiteQuality
SIO_000300: 1.239e1

GenotypeQuality
all individuals: 3556
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1783
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 652
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55030
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.46756677428823e-4
allele num: 6814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5834
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.797e1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.853e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

DP
type: SiteQuality
SIO_000300: 1.223144e6

QD
type: SiteQuality
SIO_000300: 1.145e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.091e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.04e-1

GenotypeQuality
all individuals: 654
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1781
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1494
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24723
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.804142310745472e-5
allele num: 55428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5870
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.79e-1

DP
type: SiteQuality
SIO_000300: 1.232249e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.354e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeQuality
all individuals: 1781
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1276
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2466
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.797591227754809e-5
allele num: 55630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6896
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13538
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: -1.566e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.485e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.777e1

DP
type: SiteQuality
SIO_000300: 1.238442e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.29e-1

QD
type: SiteQuality
SIO_000300: 2.18e0

GenotypeQuality
all individuals: 25182
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3116
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1276
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6906
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.15e0

VQSLOD
type: SiteQuality
SIO_000300: -1.711e0

QD
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.699e1

FS
type: SiteQuality
SIO_000300: 3.058e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

DP
type: SiteQuality
SIO_000300: 1.240565e6

GenotypeQuality
all individuals: 3048
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25264
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2695
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1593
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.204238921001927e-4
allele num: 8304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7028
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

QD
type: SiteQuality
SIO_000300: 1.581e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.812e0

VQSLOD
type: SiteQuality
SIO_000300: 2.34e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

FS
type: SiteQuality
SIO_000300: 5.798e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.88e-1

DP
type: SiteQuality
SIO_000300: 1.261546e6

GenotypeQuality
all individuals: 223
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2835
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1553
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27632
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.471017007983339e-5
allele num: 57620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13908
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7146
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

DP
type: SiteQuality
SIO_000300: 1.290225e6

QD
type: SiteQuality
SIO_000300: 9.029999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.323e0

MQ
type: SiteQuality
SIO_000300: 5.718e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.157e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

FS
type: SiteQuality
SIO_000300: 1.184e0

GenotypeQuality
all individuals: 1052
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1175
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2901
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 13
allele frequency: 9.308320206215094e-4
allele num: 13966
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.454231433506045e-5
allele num: 57900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.68e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.099e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

DP
type: SiteQuality
SIO_000300: 1.29917e6

GenotypeQuality
all individuals: 744
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29470
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.717268855612035e-5
allele num: 58232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8744
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.209e0

QD
type: SiteQuality
SIO_000300: 1.164e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

DP
type: SiteQuality
SIO_000300: 1.306501e6

GenotypeQuality
all individuals: 459
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2565
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variant carriers: 0

GenotypeQuality
all individuals: 2975
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.708583925642427e-5
allele num: 58528
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

FS
type: SiteQuality
SIO_000300: 6.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

DP
type: SiteQuality
SIO_000300: 1.318899e6

QD
type: SiteQuality
SIO_000300: 8.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

GenotypeQuality
all individuals: 867
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9650
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1786
bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 3
allele frequency: 4.044216770018873e-4
allele num: 7418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.92e-1

FS
type: SiteQuality
SIO_000300: 4.42e-1

QD
type: SiteQuality
SIO_000300: 1.596e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

DP
type: SiteQuality
SIO_000300: 1.344584e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.343e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6202
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.982265046781176e-5
allele num: 14322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

QD
type: SiteQuality
SIO_000300: 1.194e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.19e-1

DP
type: SiteQuality
SIO_000300: 1.352497e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.34e0

VQSLOD
type: SiteQuality
SIO_000300: 5.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 740
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60134
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.066325442525059e-4
allele num: 9378
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.319e0

FS
type: SiteQuality
SIO_000300: 6.204e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.376e0

QD
type: SiteQuality
SIO_000300: 1.89e1

DP
type: SiteQuality
SIO_000300: 1.362882e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.61e-1

GenotypeQuality
all individuals: 2060
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9434
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.148633126579371e-4
allele num: 8706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14480
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.326e0

DP
type: SiteQuality
SIO_000300: 1.371358e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 2.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQ
type: SiteQuality
SIO_000300: 5.437e1

MQRankSum
type: SiteQuality
SIO_000300: -3.501e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.006e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1037
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.859651529702291e-5
allele num: 14578
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7650
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.979e0

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

QD
type: SiteQuality
SIO_000300: 1.621e1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

DP
type: SiteQuality
SIO_000300: 1.390523e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.459e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 488
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variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

South Asian
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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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.631214928879029e-5
allele num: 61304
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.39927e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.147e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1837
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.811061163329247e-5
allele num: 14682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

QD
type: SiteQuality
SIO_000300: 1.514e1

MQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 8.712e0

DP
type: SiteQuality
SIO_000300: 1.402125e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.97e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61544
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 6.778741865509762e-5
allele num: 14752
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African
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allele frequency: 0.0e0
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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: 832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.3065e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

QD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

BaseQRankSum
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SIO_000300: -2.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.64e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 476
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variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.611447724635813e-5
allele num: 62056
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8912
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7848
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.452e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.308e0

MQRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.422241e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.6e0

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.606735434943282e-5
allele num: 62238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8952
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.06e-2

DP
type: SiteQuality
SIO_000300: 1.431998e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.487e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.148e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.01e-1

QD
type: SiteQuality
SIO_000300: 1.491e1

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 504
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.600051201638452e-5
allele num: 62498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14998
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8980
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.555e0

DP
type: SiteQuality
SIO_000300: 1.437363e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.93e-1

QD
type: SiteQuality
SIO_000300: 9.75e0

VQSLOD
type: SiteQuality
SIO_000300: 2.7e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 965
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15036
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.11185234600845e-4
allele num: 8994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.226e0

QD
type: SiteQuality
SIO_000300: 1.203e1

MQRankSum
type: SiteQuality
SIO_000300: 1.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.01e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.443668e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.242e-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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15156
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.204099625303064e-4
allele num: 9074
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63108
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 4.48e0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: -1.136e-1

QD
type: SiteQuality
SIO_000300: 1.381e1

DP
type: SiteQuality
SIO_000300: 1.456824e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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
allele num: 9096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579978512292233e-5
allele num: 63292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.259e1

MQ
type: SiteQuality
SIO_000300: 5.896e1

VQSLOD
type: SiteQuality
SIO_000300: -6.642e-1

DP
type: SiteQuality
SIO_000300: 1.463534e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.565190170605729e-5
allele num: 63890
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15364
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.541e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.483502e6

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10640
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64036
num of homozygotes: 0

African
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allele num: 9224
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East Asian
type: Population
allele count: 3
allele frequency: 3.676470588235294e-4
allele num: 8160
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15378
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.558895055184885e-5
allele num: 64148
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6504
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Other
type: Population
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allele num: 874
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQ
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ClippingRankSum
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ReadPosRankSum
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DP
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MQRankSum
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FS
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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allele num: 8200
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European (Finnish)
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allele count: 0
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South Asian
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allele num: 15490
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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64294
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.646e0

ClippingRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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QD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 64640
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African
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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: 0.0e0
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Other
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allele frequency: 0.0e0
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East Asian
type: Population
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allele frequency: 0.0e0
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South Asian
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num of homozygotes: 0

MQ
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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FS
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QD
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ReadPosRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.259389083625437e-5
allele num: 15976
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

QD
type: SiteQuality
SIO_000300: 1.845e1

FS
type: SiteQuality
SIO_000300: 7.759e0

DP
type: SiteQuality
SIO_000300: 1.554735e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.907e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.35e0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4386
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46891
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1788
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 266
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.253908692933083e-5
allele num: 15990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.44e0

QD
type: SiteQuality
SIO_000300: 1.881e1

DP
type: SiteQuality
SIO_000300: 1.556781e6

MQ
type: SiteQuality
SIO_000300: 5.903e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

FS
type: SiteQuality
SIO_000300: 8.08e0

GenotypeQuality
all individuals: 243
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4407
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65872
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.046462955211386e-4
allele num: 9556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.557487e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47777
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16118
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.041016031646887e-4
allele num: 9606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513592056668887e-5
allele num: 66068
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.314e1

FS
type: SiteQuality
SIO_000300: 3.246e0

DP
type: SiteQuality
SIO_000300: 1.572193e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.037e0

GenotypeQuality
all individuals: 173
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506114826194349e-5
allele num: 66396
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.451e0

VQSLOD
type: SiteQuality
SIO_000300: 3.55e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.705e0

QD
type: SiteQuality
SIO_000300: 1.207e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

DP
type: SiteQuality
SIO_000300: 1.584119e6

GenotypeQuality
all individuals: 1793
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1117
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4589
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.370629370629371e-4
allele num: 11440
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 4.906e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

DP
type: SiteQuality
SIO_000300: 1.58495e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.057e0

QD
type: SiteQuality
SIO_000300: 1.15e1

VQSLOD
type: SiteQuality
SIO_000300: 8.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 165
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1793
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506160195198361e-5
allele num: 66394
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.057e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

QD
type: SiteQuality
SIO_000300: 1.15e1

DP
type: SiteQuality
SIO_000300: 1.58495e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 4.906e0

VQSLOD
type: SiteQuality
SIO_000300: 8.99e-1