8-6378963-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6378963
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6378963
    reference: chr 8
allele count: 1
allele frequency: 9.884157672083184e-6
allele num: 101172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+21513G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.567-32C>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.411-32C>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.567-32C>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+21513G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+21513G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.567-32C>T
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7025
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29046
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-6378963-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6378963
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6378963
    reference: chr 8
allele count: 2
allele frequency: 1.976831534416637e-5
allele num: 101172
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.567-32C>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+21513G>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.411-32C>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+21513G>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+21513G>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.567-32C>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.567-32C>G
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25732
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7025
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29046
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3811
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

8-6378964-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6378964
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6378964
    reference: chr 8
allele count: 1
allele frequency: 9.979641531276197e-6
allele num: 100204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+21514G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+21514G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.411-33C>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.567-33C>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.567-33C>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+21514G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.567-33C>A
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4537
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4053
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

8-6378981-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6378981
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6378981
    reference: chr 8
allele count: 368
allele frequency: 5.38310757438343e-3
allele num: 68362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.567-50A>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+21531T>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.411-50A>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+21531T>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.567-50A>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+21531T>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.567-50A>G
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18936
  bin: 7.5e0
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 19014
  bin: 1.25e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9047
  bin: 1.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 2.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 4.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 8311
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6830
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5510
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4490
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 3.75e1
  variant carriers: 3
num of homozygotes: 6
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

8-6385028-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385028
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385028
    reference: chr 8
allele count: 9
allele frequency: 7.458851999801097e-5
allele num: 120662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27578T>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.566+48A>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.566+48A>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.410+48A>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27578T>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27578T>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.566+48A>G
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10553
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 9.75e1
  variant carriers: 9
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

8-6385039-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385039
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385039
    reference: chr 8
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.566+37G>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27589C>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27589C>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.410+37G>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.566+37G>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.566+37G>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27589C>T
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3307
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

8-6385041-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385041
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385041
    reference: chr 8
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27591G>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.410+35C>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27591G>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.566+35C>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.566+35C>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27591G>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.566+35C>G
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24281
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

8-6385048-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385048
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385048
    reference: chr 8
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27598A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27598A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.566+28T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.566+28T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27598A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.410+28T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.566+28T>C
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8259
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

8-6385056-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385056
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385056
    reference: chr 8
allele count: 336
allele frequency: 2.777226740726046e-3
allele num: 120984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27606T>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.566+20A>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.566+20A>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.410+20A>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27606T>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.566+20A>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27606T>A
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25068
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 10816
  bin: 3.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17276
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 3.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8242
  bin: 6.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

8-6385057-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385057
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385057
    reference: chr 8
allele count: 2
allele frequency: 1.653165812530997e-5
allele num: 120980
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27607G>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.566+19C>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27607G>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27607G>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.410+19C>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.566+19C>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.566+19C>G
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

8-6385065-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385065
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385065
    reference: chr 8
allele count: 2
allele frequency: 1.65180046250413e-5
allele num: 121080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.410+11T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.566+11T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.566+11T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27615A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.566+11T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27615A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27615A>G
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25536
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8337
  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: African
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

8-6385066-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385066
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385066
    reference: chr 8
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.566+10G>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27616C>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27616C>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.566+10G>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27616C>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.566+10G>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.410+10G>C
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

8-6385066-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385066
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385066
    reference: chr 8
allele count: 3
allele frequency: 2.477659767760691e-5
allele num: 121082
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.566+10G>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.566+10G>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27616C>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.410+10G>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.566+10G>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27616C>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27616C>T
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

8-6385067-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385067
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385067
    reference: chr 8
allele count: 186
allele frequency: 1.53589536093541e-3
allele num: 121102
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.566+9A>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.566+9A>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27617T>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27617T>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.566+9A>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27617T>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.410+9A>C
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10924
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 17422
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 25625
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

8-6385079-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385079
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385079
    reference: chr 8
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27629T>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27629T>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.563A>G
  hgvsp: ENSP00000428023.1:p.Asn188Ser
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.563A>G
  hgvsp: ENSP00000314897.5:p.Asn188Ser
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.563A>G
  hgvsp: ENSP00000400782.1:p.Asn188Ser
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.407A>G
  hgvsp: ENSP00000343517.6:p.Asn136Ser
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27629T>C
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8403
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn188Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

8-6385084-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385084
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385084
    reference: chr 8
allele count: 3
allele frequency: 2.474716644944154e-5
allele num: 121226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27634A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.558T>C
  hgvsp: ENST00000325203.5:c.558T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.402T>C
  hgvsp: ENST00000338312.6:c.402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.558T>C
  hgvsp: ENST00000523120.1:c.558T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.558T>C
  hgvsp: ENST00000415216.1:c.558T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27634A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27634A>G
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3233
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp186Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

8-6385086-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385086
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385086
    reference: chr 8
allele count: 2
allele frequency: 1.649729444371123e-5
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.556G>C
  hgvsp: ENSP00000400782.1:p.Asp186His
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27636C>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.556G>C
  hgvsp: ENSP00000314897.5:p.Asp186His
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.556G>C
  hgvsp: ENSP00000428023.1:p.Asp186His
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27636C>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27636C>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.400G>C
  hgvsp: ENSP00000343517.6:p.Asp134His
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp186His
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

8-6385092-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385092
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385092
    reference: chr 8
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27642A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.550T>C
  hgvsp: ENST00000523120.1:c.550T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.550T>C
  hgvsp: ENST00000325203.5:c.550T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.550T>C
  hgvsp: ENST00000415216.1:c.550T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.394T>C
  hgvsp: ENST00000338312.6:c.394T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27642A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27642A>G
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu184Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

8-6385096-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385096
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385096
    reference: chr 8
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.390C>G
  hgvsp: ENSP00000343517.6:p.Asn130Lys
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.546C>G
  hgvsp: ENSP00000314897.5:p.Asn182Lys
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.546C>G
  hgvsp: ENSP00000428023.1:p.Asn182Lys
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.546C>G
  hgvsp: ENSP00000400782.1:p.Asn182Lys
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27646G>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27646G>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27646G>C
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10997
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn182Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-6385098-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385098
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385098
    reference: chr 8
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.544A>C
  hgvsp: ENSP00000400782.1:p.Asn182His
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.544A>C
  hgvsp: ENSP00000428023.1:p.Asn182His
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.388A>C
  hgvsp: ENSP00000343517.6:p.Asn130His
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.544A>C
  hgvsp: ENSP00000314897.5:p.Asn182His
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27648T>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27648T>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27648T>G
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn182His
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

8-6385108-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385108
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385108
    reference: chr 8
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27658G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.534C>A
  hgvsp: ENST00000325203.5:c.534C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27658G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.534C>A
  hgvsp: ENST00000523120.1:c.534C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.378C>A
  hgvsp: ENST00000338312.6:c.378C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27658G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.534C>A
  hgvsp: ENST00000415216.1:c.534C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr178Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

8-6385109-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385109
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385109
    reference: chr 8
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.533C>T
  hgvsp: ENSP00000428023.1:p.Thr178Ile
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27659G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27659G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.377C>T
  hgvsp: ENSP00000343517.6:p.Thr126Ile
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.533C>T
  hgvsp: ENSP00000314897.5:p.Thr178Ile
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.533C>T
  hgvsp: ENSP00000400782.1:p.Thr178Ile
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27659G>A
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr178Ile
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-6385109-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385109
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385109
    reference: chr 8
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.533C>A
  hgvsp: ENSP00000314897.5:p.Thr178Asn
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.533C>A
  hgvsp: ENSP00000428023.1:p.Thr178Asn
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27659G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.533C>A
  hgvsp: ENSP00000400782.1:p.Thr178Asn
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27659G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.377C>A
  hgvsp: ENSP00000343517.6:p.Thr126Asn
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27659G>T
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr178Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

8-6385111-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385111
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385111
    reference: chr 8
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27661C>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.531G>A
  hgvsp: ENST00000523120.1:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27661C>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.531G>A
  hgvsp: ENST00000415216.1:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.375G>A
  hgvsp: ENST00000338312.6:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27661C>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.531G>A
  hgvsp: ENST00000325203.5:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln177Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

8-6385115-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385115
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385115
    reference: chr 8
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.371A>G
  hgvsp: ENSP00000343517.6:p.Asp124Gly
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27665T>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.527A>G
  hgvsp: ENSP00000428023.1:p.Asp176Gly
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.527A>G
  hgvsp: ENSP00000314897.5:p.Asp176Gly
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27665T>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.527A>G
  hgvsp: ENSP00000400782.1:p.Asp176Gly
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27665T>C
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8408
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp176Gly
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

8-6385123-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385123
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385123
    reference: chr 8
allele count: 3
allele frequency: 2.473410833539451e-5
allele num: 121290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27673C>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.519G>C
  hgvsp: ENSP00000314897.5:p.Gln173His
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27673C>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.519G>C
  hgvsp: ENSP00000428023.1:p.Gln173His
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.519G>C
  hgvsp: ENSP00000400782.1:p.Gln173His
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27673C>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.363G>C
  hgvsp: ENSP00000343517.6:p.Gln121His
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11025
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln173His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

8-6385139-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385139
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385139
    reference: chr 8
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27689T>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.503A>G
  hgvsp: ENSP00000400782.1:p.Asn168Ser
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.503A>G
  hgvsp: ENSP00000428023.1:p.Asn168Ser
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.503A>G
  hgvsp: ENSP00000314897.5:p.Asn168Ser
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.347A>G
  hgvsp: ENSP00000343517.6:p.Asn116Ser
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27689T>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27689T>C
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8385
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn168Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

8-6385142-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385142
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385142
    reference: chr 8
allele count: 9
allele frequency: 7.422925292380779e-5
allele num: 121246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27692G>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.500C>G
  hgvsp: ENSP00000400782.1:p.Thr167Arg
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27692G>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.500C>G
  hgvsp: ENSP00000314897.5:p.Thr167Arg
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.500C>G
  hgvsp: ENSP00000428023.1:p.Thr167Arg
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27692G>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.344C>G
  hgvsp: ENSP00000343517.6:p.Thr115Arg
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr167Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-6385144-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385144
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385144
    reference: chr 8
allele count: 16
allele frequency: 1.319761782998169e-4
allele num: 121234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27694C>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.342G>C
  hgvsp: ENST00000338312.6:c.342G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.498G>C
  hgvsp: ENST00000523120.1:c.498G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.498G>C
  hgvsp: ENST00000325203.5:c.498G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.498G>C
  hgvsp: ENST00000415216.1:c.498G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27694C>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27694C>G
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11042
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser166Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

8-6385144-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385144
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385144
    reference: chr 8
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27694C>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.498G>A
  hgvsp: ENST00000325203.5:c.498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.342G>A
  hgvsp: ENST00000338312.6:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.498G>A
  hgvsp: ENST00000415216.1:c.498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27694C>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27694C>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.498G>A
  hgvsp: ENST00000523120.1:c.498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser166Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-6385145-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385145
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385145
    reference: chr 8
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.341C>A
  hgvsp: ENSP00000343517.6:p.Ser114Ter
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.497C>A
  hgvsp: ENSP00000314897.5:p.Ser166Ter
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27695G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.497C>A
  hgvsp: ENSP00000428023.1:p.Ser166Ter
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.497C>A
  hgvsp: ENSP00000400782.1:p.Ser166Ter
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27695G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27695G>T
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8380
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser166Ter
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

8-6385145-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385145
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385145
    reference: chr 8
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27695G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27695G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27695G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.341C>T
  hgvsp: ENSP00000343517.6:p.Ser114Leu
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.497C>T
  hgvsp: ENSP00000400782.1:p.Ser166Leu
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.497C>T
  hgvsp: ENSP00000314897.5:p.Ser166Leu
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.497C>T
  hgvsp: ENSP00000428023.1:p.Ser166Leu
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8380
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser166Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/8-6385148-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385148
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385148
    reference: chr 8
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.494T>G
  hgvsp: ENSP00000400782.1:p.Leu165Arg
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27698A>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.494T>G
  hgvsp: ENSP00000428023.1:p.Leu165Arg
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.338T>G
  hgvsp: ENSP00000343517.6:p.Leu113Arg
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27698A>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.494T>G
  hgvsp: ENSP00000314897.5:p.Leu165Arg
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27698A>C
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu165Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

8-6385149-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385149
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385149
    reference: chr 8
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.493C>G
  hgvsp: ENSP00000428023.1:p.Leu165Val
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27699G>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27699G>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.493C>G
  hgvsp: ENSP00000400782.1:p.Leu165Val
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.493C>G
  hgvsp: ENSP00000314897.5:p.Leu165Val
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.337C>G
  hgvsp: ENSP00000343517.6:p.Leu113Val
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27699G>C
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu165Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

8-6385150-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385150
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385150
    reference: chr 8
allele count: 60
allele frequency: 4.949269982677555e-4
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27700G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.492C>T
  hgvsp: ENST00000325203.5:c.492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27700G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.336C>T
  hgvsp: ENST00000338312.6:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.492C>T
  hgvsp: ENST00000415216.1:c.492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27700G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.492C>T
  hgvsp: ENST00000523120.1:c.492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26480
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11031
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 9.75e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser164Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

8-6385161-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385161
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385161
    reference: chr 8
allele count: 2
allele frequency: 1.650682557237418e-5
allele num: 121162
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.481T>C
  hgvsp: ENST00000415216.1:c.481T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.481T>C
  hgvsp: ENST00000325203.5:c.481T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.325T>C
  hgvsp: ENST00000338312.6:c.325T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.481T>C
  hgvsp: ENST00000523120.1:c.481T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27711A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27711A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27711A>G
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu161Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

8-6385167-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385167
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385167
    reference: chr 8
allele count: 3
allele frequency: 2.476923330966496e-5
allele num: 121118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.475C>G
  hgvsp: ENSP00000428023.1:p.Gln159Glu
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27717G>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27717G>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.475C>G
  hgvsp: ENSP00000314897.5:p.Gln159Glu
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.475C>G
  hgvsp: ENSP00000400782.1:p.Gln159Glu
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27717G>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.319C>G
  hgvsp: ENSP00000343517.6:p.Gln107Glu
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln159Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

8-6385170-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385170
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385170
    reference: chr 8
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.472C>T
  hgvsp: ENSP00000400782.1:p.Leu158Phe
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27720G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27720G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.316C>T
  hgvsp: ENSP00000343517.6:p.Leu106Phe
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.472C>T
  hgvsp: ENSP00000314897.5:p.Leu158Phe
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.472C>T
  hgvsp: ENSP00000428023.1:p.Leu158Phe
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27720G>A
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu158Phe
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

8-6385170-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385170
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385170
    reference: chr 8
allele count: 2
allele frequency: 1.65174589541145e-5
allele num: 121084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27720G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27720G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.472C>A
  hgvsp: ENSP00000428023.1:p.Leu158Ile
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.472C>A
  hgvsp: ENSP00000314897.5:p.Leu158Ile
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27720G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.316C>A
  hgvsp: ENSP00000343517.6:p.Leu106Ile
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.472C>A
  hgvsp: ENSP00000400782.1:p.Leu158Ile
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3179
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu158Ile
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

8-6385173-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385173
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385173
    reference: chr 8
allele count: 8
allele frequency: 6.612444620776301e-5
allele num: 120984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.469G>C
  hgvsp: ENSP00000428023.1:p.Glu157Gln
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27723C>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27723C>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.313G>C
  hgvsp: ENSP00000343517.6:p.Glu105Gln
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27723C>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.469G>C
  hgvsp: ENSP00000400782.1:p.Glu157Gln
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.469G>C
  hgvsp: ENSP00000314897.5:p.Glu157Gln
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26513
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Glu157Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/8-6385174-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385174
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385174
    reference: chr 8
allele count: 1
allele frequency: 8.267195767195768e-6
allele num: 120960
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.468T>G
  hgvsp: ENST00000415216.1:c.468T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27724A>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27724A>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.468T>G
  hgvsp: ENST00000325203.5:c.468T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.468T>G
  hgvsp: ENST00000523120.1:c.468T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.312T>G
  hgvsp: ENST00000338312.6:c.312T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27724A>C
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26518
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu156Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
reference allele: A
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-6385180-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385180
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385180
    reference: chr 8
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27730C>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27730C>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.462G>T
  hgvsp: ENST00000523120.1:c.462G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27730C>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.462G>T
  hgvsp: ENST00000415216.1:c.462G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.306G>T
  hgvsp: ENST00000338312.6:c.306G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.462G>T
  hgvsp: ENST00000325203.5:c.462G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr154Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

8-6385180-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385180
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385180
    reference: chr 8
allele count: 404
allele frequency: 3.346254514130471e-3
allele num: 120732
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.462G>A
  hgvsp: ENST00000325203.5:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.462G>A
  hgvsp: ENST00000415216.1:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27730C>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27730C>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.462G>A
  hgvsp: ENST00000523120.1:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.306G>A
  hgvsp: ENST00000338312.6:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27730C>T
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26380
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 9.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 3.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 16315
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10945
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 9.75e1
  variant carriers: 398
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr154Thr
num of homozygotes: 6
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

8-6385181-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385181
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385181
    reference: chr 8
allele count: 5
allele frequency: 4.142845306156268e-5
allele num: 120690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.461C>T
  hgvsp: ENSP00000428023.1:p.Thr154Met
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.305C>T
  hgvsp: ENSP00000343517.6:p.Thr102Met
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.461C>T
  hgvsp: ENSP00000314897.5:p.Thr154Met
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27731G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27731G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27731G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.461C>T
  hgvsp: ENSP00000400782.1:p.Thr154Met
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Thr154Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

8-6385183-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385183
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385183
    reference: chr 8
allele count: 1
allele frequency: 8.293524416135881e-6
allele num: 120576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27733G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.459C>A
  hgvsp: ENST00000415216.1:c.459C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27733G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.459C>A
  hgvsp: ENST00000523120.1:c.459C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.459C>A
  hgvsp: ENST00000325203.5:c.459C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.303C>A
  hgvsp: ENST00000338312.6:c.303C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27733G>T
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8242
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr153Thr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

8-6385184-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385184
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385184
    reference: chr 8
allele count: 1
allele frequency: 8.298204268596276e-6
allele num: 120508
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27734G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.458C>T
  hgvsp: ENSP00000428023.1:p.Thr153Ile
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.458C>T
  hgvsp: ENSP00000314897.5:p.Thr153Ile
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.458C>T
  hgvsp: ENSP00000400782.1:p.Thr153Ile
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27734G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.302C>T
  hgvsp: ENSP00000343517.6:p.Thr101Ile
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27734G>A
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr153Ile
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-6385184-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385184
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385184
    reference: chr 8
allele count: 1
allele frequency: 8.298204268596276e-6
allele num: 120508
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.458C>A
  hgvsp: ENSP00000314897.5:p.Thr153Asn
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27734G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27734G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.458C>A
  hgvsp: ENSP00000400782.1:p.Thr153Asn
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.302C>A
  hgvsp: ENSP00000343517.6:p.Thr101Asn
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27734G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.458C>A
  hgvsp: ENSP00000428023.1:p.Thr153Asn
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr153Asn
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

8-6385194-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385194
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385194
    reference: chr 8
allele count: 1
allele frequency: 8.37885846432282e-6
allele num: 119348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27744A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.292T>C
  hgvsp: ENST00000338312.6:c.292T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.448T>C
  hgvsp: ENST00000415216.1:c.448T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.448T>C
  hgvsp: ENST00000325203.5:c.448T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.448T>C
  hgvsp: ENST00000523120.1:c.448T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27744A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27744A>G
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu150Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

8-6385202-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385202
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385202
    reference: chr 8
allele count: 1
allele frequency: 8.595200440074262e-6
allele num: 116344
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27752A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27752A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27752A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.445-5T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.445-5T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.445-5T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-5T>C
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9717
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6157
  bin: 6.75e1
  variant carriers: 0
hgvs: c.445-5T>C
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: A
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/8-6385209-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385209
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385209
    reference: chr 8
allele count: 7
allele frequency: 6.108095844749656e-5
allele num: 114602
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27759A>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-12T>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27759A>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.445-12T>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.445-12T>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27759A>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.445-12T>G
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20727
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8946
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33796
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

8-6385212-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385212
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385212
    reference: chr 8
allele count: 1
allele frequency: 8.852377748663291e-6
allele num: 112964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.445-15T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27762A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27762A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.445-15T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.445-15T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27762A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-15T>C
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 18538
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

8-6385213-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385213
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385213
    reference: chr 8
allele count: 1
allele frequency: 8.901390397180039e-6
allele num: 112342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.445-16A>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-16A>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.445-16A>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27763T>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27763T>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27763T>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.445-16A>C
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

8-6385214-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385214
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385214
    reference: chr 8
allele count: 2
allele frequency: 1.792435920415845e-5
allele num: 111580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27764G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.445-17C>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27764G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-17C>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.445-17C>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.445-17C>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27764G>A
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

8-6385218-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385218
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385218
    reference: chr 8
allele count: 1
allele frequency: 9.29022668153103e-6
allele num: 107640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27768T>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.445-21A>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.445-21A>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27768T>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27768T>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.445-21A>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-21A>G
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3755
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3903
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

8-6385220-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385220
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385220
    reference: chr 8
allele count: 3
allele frequency: 2.788104089219331e-5
allele num: 107600
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.445-23G>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27770C>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.445-23G>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.445-23G>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27770C>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27770C>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-23G>C
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20588
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

8-6385221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385221
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385221
    reference: chr 8
allele count: 3
allele frequency: 2.809830660872171e-5
allele num: 106768
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.445-24G>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.445-24G>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27771C>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27771C>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27771C>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-24G>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.445-24G>A
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18784
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

8-6385223-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385223
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385223
    reference: chr 8
allele count: 1
allele frequency: 9.482088335134931e-6
allele num: 105462
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.445-26T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.445-26T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27773A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27773A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27773A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.445-26T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-26T>C
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4491
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19039
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18022
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4131
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

8-6385223-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385223
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385223
    reference: chr 8
allele count: 1
allele frequency: 9.482088335134931e-6
allele num: 105462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.445-26T>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27773A>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27773A>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27773A>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.445-26T>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.445-26T>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-26T>A
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19039
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18022
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4131
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

8-6385227-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385227
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385227
    reference: chr 8
allele count: 1
allele frequency: 9.882790109303658e-6
allele num: 101186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-30T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.445-30T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27777A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.445-30T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27777A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27777A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.445-30T>C
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7901
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20996
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4776
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

8-6385234-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385234
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385234
    reference: chr 8
allele count: 1
allele frequency: 1.093159010909727e-5
allele num: 91478
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27784T>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.445-37A>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27784T>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.445-37A>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.445-37A>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27784T>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-37A>T
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5048
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7550
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5467
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5558
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

8-6385241-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385241
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385241
    reference: chr 8
allele count: 1
allele frequency: 1.116121255413188e-5
allele num: 89596
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.445-44T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.445-44T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27791A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-44T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27791A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.445-44T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27791A>G
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17893
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5850
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7625
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-6385247-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6385247
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6385247
    reference: chr 8
allele count: 1
allele frequency: 1.201720864277646e-5
allele num: 83214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+27797A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+27797A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.445-50T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-50T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+27797A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.445-50T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.445-50T>C
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16240
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5986
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4824
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

8-6389805-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6389805
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6389805
    reference: chr 8
allele count: 7
allele frequency: 5.76672762921589e-5
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.444+48A>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+32355T>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.444+48A>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-4608A>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.444+48A>G
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+32355T>C
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+32355T>C
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6772
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

8-6389813-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6389813
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6389813
    reference: chr 8
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+32363A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.444+40T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.444+40T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+32363A>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.444+40T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-4616T>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+32363A>G
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6772
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55069
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

8-6389815-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6389815
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6389815
    reference: chr 8
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+32365C>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.444+38G>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.444+38G>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+32365C>G
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-4618G>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.444+38G>C
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+32365C>G
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55070
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

8-6389817-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6389817
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6389817
    reference: chr 8
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.444+36C>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-4620C>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.444+36C>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+32367G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+32367G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.444+36C>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+32367G>T
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6774
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55077
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-6389818-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6389818
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6389818
    reference: chr 8
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+32368C>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.444+35G>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+32368C>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+32368C>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.444+35G>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.444+35G>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-4621G>T
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55076
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

8-6389822-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6389822
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6389822
    reference: chr 8
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.444+31C>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-4625C>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+32372G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+32372G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+32372G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.444+31C>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.444+31C>T
  variant of: http://identifiers.org/hgnc/485
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55085
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

8-6389827-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6389827
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6389827
    reference: chr 8
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.444+26G>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+32377C>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.444+26G>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.444+26G>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+32377C>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-4630G>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+32377C>T
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6774
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55087
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

8-6389828-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6389828
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6389828
    reference: chr 8
allele count: 6
allele frequency: 4.942095118857387e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+32378G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-4631C>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+32378G>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.444+25C>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.444+25C>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.444+25C>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+32378G>A
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

8-6389828-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6389828
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6389828
    reference: chr 8
allele count: 694
allele frequency: 5.716356687478379e-3
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+32378G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.444+25C>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+32378G>T
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-4631C>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.444+25C>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.444+25C>A
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+32378G>T
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 5.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 6.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5813
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 9.75e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 8.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 9.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 7.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 8.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 5.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 7.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 6.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 5
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

8-6389831-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6389831
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 6389831
    reference: chr 8
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000400782
  ensembl transcript: ENST00000415216
  gene symbol: ANGPT2
  hgvsc: ENST00000415216.1:c.444+22A>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000343517
  ensembl transcript: ENST00000338312
  gene symbol: ANGPT2
  hgvsc: ENST00000338312.6:c.289-4634A>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000314897
  ensembl transcript: ENST00000325203
  gene symbol: ANGPT2
  hgvsc: ENST00000325203.5:c.444+22A>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000091879
  ensembl protein: ENSP00000428023
  ensembl transcript: ENST00000523120
  gene symbol: ANGPT2
  hgvsc: ENST00000523120.1:c.444+22A>T
  variant of: http://identifiers.org/hgnc/485
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl protein: ENSP00000342924
  ensembl transcript: ENST00000344683
  gene symbol: MCPH1
  hgvsc: ENST00000344683.5:c.2214+32381T>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000521129
  gene symbol: MCPH1
  hgvsc: ENST00000521129.1:n.372+32381T>A
  variant of: http://identifiers.org/hgnc/6954
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147316
  ensembl transcript: ENST00000519221
  gene symbol: MCPH1
  hgvsc: ENST00000519221.1:n.321+32381T>A
  variant of: http://identifiers.org/hgnc/6954
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4994
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 134
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2930
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3811
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12184
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 189
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.175660160734788e-5
allele num: 13936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.022e1

VQSLOD
type: SiteQuality
SIO_000300: -2.231e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.8e0

MQRankSum
type: SiteQuality
SIO_000300: -2.203e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.079678e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.14e0

GenotypeQuality
all individuals: 540
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4336
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 209
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.712503712503712e-5
allele num: 53872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9518
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.022e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

DP
type: SiteQuality
SIO_000300: 1.079678e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.14e0

MQRankSum
type: SiteQuality
SIO_000300: -2.203e0

VQSLOD
type: SiteQuality
SIO_000300: -2.231e0

GenotypeQuality
all individuals: 29229
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11030
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3259
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53222
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.383125864453665e-4
allele num: 7230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13828
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.793e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 1.057393e6

QD
type: SiteQuality
SIO_000300: 1.296e1

GenotypeQuality
all individuals: 1162
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 428
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1278
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 1525
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5844
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1579
bin: 9.75e1
variant carriers: 351

GenotypeQuality
all individuals: 701
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 152
bin: 8.75e1
variant carriers: 10

GenotypeQuality
all individuals: 15650
bin: 2.25e1
variant carriers: 6

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.728608470181504e-4
allele num: 34710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4762
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.633986928104575e-3
allele num: 612
num of homozygotes: 0

African
type: Population
allele count: 341
allele frequency: 4.808234630569656e-2
allele num: 7092
num of homozygotes: 6

Latino
type: Population
allele count: 20
allele frequency: 2.97000297000297e-3
allele num: 6734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4506
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

DP
type: SiteQuality
SIO_000300: 8.21644e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.72e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

QD
type: SiteQuality
SIO_000300: 1.799e1

GenotypeQuality
all individuals: 798
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1762
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1815
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8211
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

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

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

African
type: Population
allele count: 9
allele frequency: 8.680555555555555e-4
allele num: 10368
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.212e0

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.769843e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

FS
type: SiteQuality
SIO_000300: 7.49e-1

GenotypeQuality
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1662
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39143
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66326
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 9.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.759e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 9.978999999999999e0

DP
type: SiteQuality
SIO_000300: 1.789071e6

VQSLOD
type: SiteQuality
SIO_000300: 4.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
all individuals: 1506
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8234
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3306
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 577
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40044
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1682
bin: 7.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66378
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.792381e6

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.87e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.183e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

QD
type: SiteQuality
SIO_000300: 6.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3308
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
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: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.002e0

FS
type: SiteQuality
SIO_000300: 6.719e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

QD
type: SiteQuality
SIO_000300: 1.988e1

DP
type: SiteQuality
SIO_000300: 1.805131e6

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42798
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3531
bin: 9.75e1
variant carriers: 334

GenotypeQuality
all individuals: 299
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 12
allele frequency: 1.814882032667877e-3
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 288
allele frequency: 4.333042457797972e-3
allele num: 66466
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.816955684007707e-4
allele num: 10380
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216249087813184e-4
allele num: 16444
num of homozygotes: 0

Latino
type: Population
allele count: 26
allele frequency: 2.25186211675039e-3
allele num: 11546
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.31858407079646e-3
allele num: 904
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

FS
type: SiteQuality
SIO_000300: 1.329e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.307e1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

DP
type: SiteQuality
SIO_000300: 1.818737e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 160
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3211
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8293
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.216397031991242e-4
allele num: 16442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.812773e6

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.57e-1

QD
type: SiteQuality
SIO_000300: 1.326e1

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43669
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3211
bin: 9.75e1
variant carriers: 2

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66528
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.215066828675577e-4
allele num: 16460
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e0

MQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.81902e6

GenotypeQuality
all individuals: 1636
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8319
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503171692270691e-5
allele num: 66526
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.527e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

FS
type: SiteQuality
SIO_000300: 5.425e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e-1

QD
type: SiteQuality
SIO_000300: 1.482e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 1.820304e6

GenotypeQuality
all individuals: 178
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8319
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1636
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3207
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 323
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.509515076812073e-5
allele num: 66526
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.527e0

FS
type: SiteQuality
SIO_000300: 5.425e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

QD
type: SiteQuality
SIO_000300: 1.482e1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.820304e6

GenotypeQuality
all individuals: 159
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43626
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3297
bin: 9.75e1
variant carriers: 186

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005801196308876e-5
allele num: 66538
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.461405330564209e-4
allele num: 11556
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 179
allele frequency: 1.723473907182746e-2
allele num: 10386
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 4.67e0

DP
type: SiteQuality
SIO_000300: 1.825716e6

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.074e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

QD
type: SiteQuality
SIO_000300: 1.197e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -6.429e-1

FS
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 1.527e1

DP
type: SiteQuality
SIO_000300: 1.82698e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.885170225043277e-4
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 5.97e-1

QD
type: SiteQuality
SIO_000300: 1.419e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

DP
type: SiteQuality
SIO_000300: 1.827801e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

GenotypeQuality
all individuals: 140
bin: 2.25e1
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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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1441
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variant carriers: 0

GenotypeQuality
all individuals: 44092
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31535077564251e-4
allele num: 8638
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

DP
type: SiteQuality
SIO_000300: 1.827917e6

MQRankSum
type: SiteQuality
SIO_000300: -1.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.446e0

FS
type: SiteQuality
SIO_000300: 2.491e0

QD
type: SiteQuality
SIO_000300: 1.328e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

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

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 133
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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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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.662e0

VQSLOD
type: SiteQuality
SIO_000300: -4.97e-2

DP
type: SiteQuality
SIO_000300: 1.828646e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

QD
type: SiteQuality
SIO_000300: 1.688e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.05e-1

GenotypeQuality
all individuals: 3230
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8398
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GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.663e1

FS
type: SiteQuality
SIO_000300: 4.833e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: 4.69e-1

DP
type: SiteQuality
SIO_000300: 1.829037e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 118
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.819e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.401e1

DP
type: SiteQuality
SIO_000300: 1.829015e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66652
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African
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allele count: 0
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allele num: 10400
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South Asian
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allele num: 16496
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.48e0

VQSLOD
type: SiteQuality
SIO_000300: 4.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.19e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

Other
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allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.830942e6

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8411
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.831155e6

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.73e-1

QD
type: SiteQuality
SIO_000300: 1.249e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.621e0

FS
type: SiteQuality
SIO_000300: 5.293e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.048e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

East Asian
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allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

QD
type: SiteQuality
SIO_000300: 9.99e0

VQSLOD
type: SiteQuality
SIO_000300: -7.107e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.831722e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.768e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.469010175763182e-4
allele num: 8648
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.69e-1

FS
type: SiteQuality
SIO_000300: 2.229e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.28e-1

DP
type: SiteQuality
SIO_000300: 1.832161e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.832154e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

QD
type: SiteQuality
SIO_000300: 1.426e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 2.45e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.227e0

VQSLOD
type: SiteQuality
SIO_000300: -1.669e0

MQ
type: SiteQuality
SIO_000300: 5.885e1

GenotypeQuality
all individuals: 1408
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 9

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 44367
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

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

East Asian
type: Population
allele count: 9
allele frequency: 1.040462427745665e-3
allele num: 8650
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 1.83235e6

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

FS
type: SiteQuality
SIO_000300: 1.164e0

QD
type: SiteQuality
SIO_000300: 1.243e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 16

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 16
allele frequency: 1.539053482108503e-3
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.34e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

DP
type: SiteQuality
SIO_000300: 1.832779e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.185e0

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.832779e6

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

FS
type: SiteQuality
SIO_000300: 1.185e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.372e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

BaseQRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.831812e6

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.331e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.21e-1

FS
type: SiteQuality
SIO_000300: 4.452e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.987e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.831518e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

QD
type: SiteQuality
SIO_000300: 1.294e1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 904
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQ
type: SiteQuality
SIO_000300: 5.777e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.462e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

QD
type: SiteQuality
SIO_000300: 3.73e0

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.256e0

VQSLOD
type: SiteQuality
SIO_000300: -2.412e0

DP
type: SiteQuality
SIO_000300: 1.831856e6

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 54
allele frequency: 5.194305502116198e-3
allele num: 10396
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.326756663205261e-4
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

FS
type: SiteQuality
SIO_000300: 1.178e0

QD
type: SiteQuality
SIO_000300: 1.342e1

VQSLOD
type: SiteQuality
SIO_000300: 4.24e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

DP
type: SiteQuality
SIO_000300: 1.834232e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502268425322237e-5
allele num: 66566
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.874e1

FS
type: SiteQuality
SIO_000300: 1.182e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.8296e6

VQSLOD
type: SiteQuality
SIO_000300: 8.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.77e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.597402597402597e-4
allele num: 11550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.236e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.76e-1

DP
type: SiteQuality
SIO_000300: 1.828764e6

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.76e-1

FS
type: SiteQuality
SIO_000300: 3.502e0

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 1.82781e6

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

FS
type: SiteQuality
SIO_000300: 2.814e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.117e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

QD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.814e0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

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

South Asian
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allele count: 3
allele frequency: 1.822157434402332e-4
allele num: 16464
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

Latino
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allele frequency: 4.331254331254331e-4
allele num: 11544
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 1.825789e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.368e0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66416
num of homozygotes: 0

South Asian
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allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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allele num: 906
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African
type: Population
allele count: 0
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FS
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.934e1

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
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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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509433962264151e-5
allele num: 66250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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African
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.72e-2

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
all individuals: 1518
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018867924528302e-5
allele num: 66250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

African
type: Population
allele count: 386
allele frequency: 3.722275795564127e-2
allele num: 10370
num of homozygotes: 6

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

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

Latino
type: Population
allele count: 14
allele frequency: 1.213592233009709e-3
allele num: 11536
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.72e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

VQSLOD
type: SiteQuality
SIO_000300: 6.37e0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.824822e6

QD
type: SiteQuality
SIO_000300: 1.367e1

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

GenotypeQuality
all individuals: 44034
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 932
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1523
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GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.53035336756267e-5
allele num: 66220
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.084945843981989e-5
allele num: 16434
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.348e1

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.516e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.076e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.806959e6

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

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 131
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GenotypeQuality
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GenotypeQuality
all individuals: 43840
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variant carriers: 0

GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 591
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66150
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.26e0

DP
type: SiteQuality
SIO_000300: 1.802751e6

MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.83e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 6.11e0

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

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
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GenotypeQuality
all individuals: 34
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GenotypeQuality
all individuals: 299
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1507
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 79
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GenotypeQuality
all individuals: 2970
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 587
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66110
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.800428e6

FS
type: SiteQuality
SIO_000300: 3.456e0

VQSLOD
type: SiteQuality
SIO_000300: 9.95e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.274e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.843e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8234
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 1325
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GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
all individuals: 200
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variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 1266
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variant carriers: 0

GenotypeQuality
all individuals: 43723
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.663703131039814e-5
allele num: 10348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66110
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.274e1

FS
type: SiteQuality
SIO_000300: 3.456e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.843e0

VQSLOD
type: SiteQuality
SIO_000300: 9.95e-1

DP
type: SiteQuality
SIO_000300: 1.800428e6

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.956e1

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

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

GenotypeQuality
all individuals: 2961
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variant carriers: 1

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 569
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variant carriers: 0

GenotypeQuality
all individuals: 1464
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variant carriers: 0

GenotypeQuality
all individuals: 293
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GenotypeQuality
all individuals: 196
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GenotypeQuality
all individuals: 41838
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1256
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variant carriers: 0

GenotypeQuality
all individuals: 8054
bin: 6.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529753709652746e-5
allele num: 65370
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 1.77007e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

FS
type: SiteQuality
SIO_000300: 1.592e0

VQSLOD
type: SiteQuality
SIO_000300: 3.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.516e1

GenotypeQuality
all individuals: 316
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8434
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 804
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GenotypeQuality
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GenotypeQuality
all individuals: 998
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GenotypeQuality
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GenotypeQuality
all individuals: 36723
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GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
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variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.260956674179814e-5
allele num: 15972
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.6712e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

QD
type: SiteQuality
SIO_000300: 9.02e0

VQSLOD
type: SiteQuality
SIO_000300: 6.909999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 292
bin: 5.75e1
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GenotypeQuality
all individuals: 117
bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11310
bin: 2.25e1
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GenotypeQuality
all individuals: 825
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GenotypeQuality
all individuals: 103
bin: 4.25e1
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GenotypeQuality
all individuals: 2957
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1544
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.121076233183857e-4
allele num: 62440
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9898
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

QD
type: SiteQuality
SIO_000300: 1.371e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.610424e6

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 294
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 2.75e1
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GenotypeQuality
all individuals: 446
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GenotypeQuality
all individuals: 267
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14006
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variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61490
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.0275380189067e-4
allele num: 9732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7962
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

FS
type: SiteQuality
SIO_000300: 3.225e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

DP
type: SiteQuality
SIO_000300: 1.547687e6

VQSLOD
type: SiteQuality
SIO_000300: -3.693e0

MQ
type: SiteQuality
SIO_000300: 3.47e1

QD
type: SiteQuality
SIO_000300: 1.84e0

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2317
bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 342
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variant carriers: 0

GenotypeQuality
all individuals: 2071
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61148
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.130752373995617e-5
allele num: 10952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.671e1

DP
type: SiteQuality
SIO_000300: 1.523289e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 3.644e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.647e0

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2951
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.090301003344482e-4
allele num: 9568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15552
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60708
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

FS
type: SiteQuality
SIO_000300: 2.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.786e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

DP
type: SiteQuality
SIO_000300: 1.497654e6

MQ
type: SiteQuality
SIO_000300: 3.491e1

QD
type: SiteQuality
SIO_000300: 7.9e-1

GenotypeQuality
all individuals: 1117
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.713384963333562e-5
allele num: 58364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9064
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

MQ
type: SiteQuality
SIO_000300: 4.169e1

VQSLOD
type: SiteQuality
SIO_000300: -4.263e0

DP
type: SiteQuality
SIO_000300: 1.374535e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.592e0

FS
type: SiteQuality
SIO_000300: 2.35e0

QD
type: SiteQuality
SIO_000300: 3.117e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.55e0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
all individuals: 443
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3729
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 175
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variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6026
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.140154890000685e-5
allele num: 58364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7350
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.371613e6

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

QD
type: SiteQuality
SIO_000300: 1.509e1

FS
type: SiteQuality
SIO_000300: 5.726e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3981
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6002
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8984
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.184212345337665e-5
allele num: 57868
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.350689e6

VQSLOD
type: SiteQuality
SIO_000300: -2.378e0

FS
type: SiteQuality
SIO_000300: 4.711e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.816e0

QD
type: SiteQuality
SIO_000300: 2.677e1

GenotypeQuality
all individuals: 327
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
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variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2949
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2001
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5946
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10580
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.135847342117219e-4
allele num: 8804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57188
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.31e-2

DP
type: SiteQuality
SIO_000300: 1.314124e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

FS
type: SiteQuality
SIO_000300: 4.247e0

QD
type: SiteQuality
SIO_000300: 1.068e1

GenotypeQuality
all individuals: 4491
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2949
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 269
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2215
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 174
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variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3581
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.748618591312863e-5
allele num: 57188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.068e1

FS
type: SiteQuality
SIO_000300: 4.247e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

DP
type: SiteQuality
SIO_000300: 1.314124e6

VQSLOD
type: SiteQuality
SIO_000300: -1.31e-2

GenotypeQuality
all individuals: 6077
bin: 3.25e1
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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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12934
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5740
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.580379383023568e-5
allele num: 10438
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54622
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.223129e6

MQRankSum
type: SiteQuality
SIO_000300: -3.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.515e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
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variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.027163997567403e-5
allele num: 49330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13638
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e0

DP
type: SiteQuality
SIO_000300: 1.108375e6

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

QD
type: SiteQuality
SIO_000300: 1.016e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.61e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1560
bin: 6.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5092
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: 1
allele frequency: 1.992825827022718e-4
allele num: 5018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13514
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.875e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.467e0

VQSLOD
type: SiteQuality
SIO_000300: -2.035e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e0

QD
type: SiteQuality
SIO_000300: 1.634e1

DP
type: SiteQuality
SIO_000300: 1.086678e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

GenotypeQuality
all individuals: 7565
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6082
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 2947
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1045
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.334267040149393e-4
allele num: 4284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8924
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12926
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.064316e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

VQSLOD
type: SiteQuality
SIO_000300: -1.06e-1

QD
type: SiteQuality
SIO_000300: 8.42e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.767012687427913e-4
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 4.026093e6

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.013e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.026841e6

QD
type: SiteQuality
SIO_000300: 1.401e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e0

MQRankSum
type: SiteQuality
SIO_000300: -1.835e0

VQSLOD
type: SiteQuality
SIO_000300: -7.335e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 944
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

FS
type: SiteQuality
SIO_000300: 2.234e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

QD
type: SiteQuality
SIO_000300: 1.57e1

DP
type: SiteQuality
SIO_000300: 4.027094e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.868e0

VQSLOD
type: SiteQuality
SIO_000300: 7.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e0

GenotypeQuality
all individuals: 591
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 775
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 4.027273e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.374e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 8.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

FS
type: SiteQuality
SIO_000300: 1.542e0

QD
type: SiteQuality
SIO_000300: 1.179e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.17e-1

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1235
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 760
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
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GenotypeQuality
all individuals: 953
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

MQ
type: SiteQuality
SIO_000300: 5.987e1

MQRankSum
type: SiteQuality
SIO_000300: -7.65e-1

DP
type: SiteQuality
SIO_000300: 4.027471e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.583e0

QD
type: SiteQuality
SIO_000300: 1.216e1

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.847e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e0

DP
type: SiteQuality
SIO_000300: 4.027919e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.084e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.99e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.67e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

GenotypeQuality
all individuals: 600
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

VQSLOD
type: SiteQuality
SIO_000300: -7.01e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.79e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

DP
type: SiteQuality
SIO_000300: 4.028145e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 55135
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.634161114476075e-4
allele num: 16510
num of homozygotes: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.381e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.339e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.048688e6

MQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 752
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 953
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GenotypeQuality
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bin: 9.75e1
variant carriers: 689

GenotypeQuality
all individuals: 1220
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GenotypeQuality
all individuals: 0
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variant carriers: 0

African
type: Population
allele count: 17
allele frequency: 1.633672881030175e-3
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 7.874015748031496e-4
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 93
allele frequency: 8.032475384349629e-3
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 7.709251101321586e-3
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.360749924402782e-3
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 555
allele frequency: 8.316350994965235e-3
allele num: 66736
num of homozygotes: 5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

FS
type: SiteQuality
SIO_000300: 1.381e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

DP
type: SiteQuality
SIO_000300: 4.048688e6

QD
type: SiteQuality
SIO_000300: 1.339e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2