12-48187243-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48187243
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48187243
    reference: chr 12
allele count: 19
allele frequency: 1.029140938143213e-3
allele num: 18462
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1638A>C
  hgvsp: ENST00000380610.4:c.1638A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000459625
  gene symbol: HDAC7
  hgvsc: ENST00000459625.1:n.39A>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448305
  ensembl transcript: ENST00000548938
  gene symbol: HDAC7
  hgvsc: ENST00000548938.1:c.83A>C
  hgvsp: ENST00000548938.1:c.83A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1536A>C
  hgvsp: ENST00000552960.1:c.1536A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.1097A>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1587A>C
  hgvsp: ENST00000080059.7:c.1587A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1476A>C
  hgvsp: ENST00000354334.3:c.1476A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*676A>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1470A>C
  hgvsp: ENST00000427332.2:c.1470A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11350
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29872
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8517
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala529Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

12-48187267-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48187267
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48187267
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 18524
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1614C>G
  hgvsp: ENST00000380610.4:c.1614C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1452C>G
  hgvsp: ENST00000354334.3:c.1452C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*652C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000459625
  gene symbol: HDAC7
  hgvsc: ENST00000459625.1:n.15C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.1073C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1563C>G
  hgvsp: ENST00000080059.7:c.1563C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1512C>G
  hgvsp: ENST00000552960.1:c.1512C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448305
  ensembl transcript: ENST00000548938
  gene symbol: HDAC7
  hgvsc: ENST00000548938.1:c.59C>G
  hgvsp: ENST00000548938.1:c.59C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1446C>G
  hgvsp: ENST00000427332.2:c.1446C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31142
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser521Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/12-48187282-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48187282
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48187282
    reference: chr 12
allele count: 1
allele frequency: 5.564210994880926e-5
allele num: 17972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1497G>T
  hgvsp: ENST00000552960.1:c.1497G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448305
  ensembl transcript: ENST00000548938
  gene symbol: HDAC7
  hgvsc: ENST00000548938.1:c.44G>T
  hgvsp: ENST00000548938.1:c.44G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*637G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1599G>T
  hgvsp: ENST00000380610.4:c.1599G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1437G>T
  hgvsp: ENST00000354334.3:c.1437G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1431G>T
  hgvsp: ENST00000427332.2:c.1431G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.1058G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1548G>T
  hgvsp: ENST00000080059.7:c.1548G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28865
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27315
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly516Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-48187283-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48187283
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48187283
    reference: chr 12
allele count: 2
allele frequency: 1.118943717131028e-4
allele num: 17874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*636G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.1057G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448305
  ensembl transcript: ENST00000548938
  gene symbol: HDAC7
  hgvsc: ENST00000548938.1:c.43G>T
  hgvsp: ENSP00000448305.1:p.Gly15Val
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1430G>T
  hgvsp: ENSP00000404394.2:p.Gly477Val
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1598G>T
  hgvsp: ENSP00000369984.4:p.Gly533Val
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1436G>T
  hgvsp: ENSP00000351326.3:p.Gly479Val
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1496G>T
  hgvsp: ENSP00000448532.1:p.Gly499Val
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1547G>T
  hgvsp: ENSP00000080059.7:p.Gly516Val
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27876
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6585
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly516Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff

12-48187292-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48187292
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48187292
    reference: chr 12
allele count: 52
allele frequency: 2.938517179023508e-3
allele num: 17696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1589C>G
  hgvsp: ENSP00000369984.4:p.Ala530Gly
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*627C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1421C>G
  hgvsp: ENSP00000404394.2:p.Ala474Gly
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1487C>G
  hgvsp: ENSP00000448532.1:p.Ala496Gly
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1538C>G
  hgvsp: ENSP00000080059.7:p.Ala513Gly
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.1048C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1427C>G
  hgvsp: ENSP00000351326.3:p.Ala476Gly
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448305
  ensembl transcript: ENST00000548938
  gene symbol: HDAC7
  hgvsc: ENST00000548938.1:c.34C>G
  hgvsp: ENSP00000448305.1:p.Ala12Gly
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25976
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24237
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 3
hgvs: p.Ala513Gly
num of homozygotes: 1
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

12-48187310-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48187310
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48187310
    reference: chr 12
allele count: 1
allele frequency: 5.834305717619604e-5
allele num: 17140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1571C>G
  hgvsp: ENSP00000369984.4:p.Thr524Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.1030C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448305
  ensembl transcript: ENST00000548938
  gene symbol: HDAC7
  hgvsc: ENST00000548938.1:c.16C>G
  hgvsp: ENSP00000448305.1:p.Thr6Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1403C>G
  hgvsp: ENSP00000404394.2:p.Thr468Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1520C>G
  hgvsp: ENSP00000080059.7:p.Thr507Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1409C>G
  hgvsp: ENSP00000351326.3:p.Thr470Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1469C>G
  hgvsp: ENSP00000448532.1:p.Thr490Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*609C>G
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr507Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-48187312-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48187312
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48187312
    reference: chr 12
allele count: 2
allele frequency: 1.166044776119403e-4
allele num: 17152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448305
  ensembl transcript: ENST00000548938
  gene symbol: HDAC7
  hgvsc: ENST00000548938.1:c.14C>T
  hgvsp: ENST00000548938.1:c.14C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1401C>T
  hgvsp: ENST00000427332.2:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.1028C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1518C>T
  hgvsp: ENST00000080059.7:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1467C>T
  hgvsp: ENST00000552960.1:c.1467C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1407C>T
  hgvsp: ENST00000354334.3:c.1407C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1569C>T
  hgvsp: ENST00000380610.4:c.1569C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*607C>T
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp506Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

12-48187317-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48187317
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48187317
    reference: chr 12
allele count: 3
allele frequency: 1.801369040470758e-4
allele num: 16654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.1023G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1564G>A
  hgvsp: ENSP00000369984.4:p.Gly522Arg
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*602G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1462G>A
  hgvsp: ENSP00000448532.1:p.Gly488Arg
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448305
  ensembl transcript: ENST00000548938
  gene symbol: HDAC7
  hgvsc: ENST00000548938.1:c.9G>A
  hgvsp: ENSP00000448305.1:p.Gly4Arg
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1396G>A
  hgvsp: ENSP00000404394.2:p.Gly466Arg
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1402G>A
  hgvsp: ENSP00000351326.3:p.Gly468Arg
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1513G>A
  hgvsp: ENSP00000080059.7:p.Gly505Arg
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17751
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly505Arg
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

12-48187318-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48187318
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48187318
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 16706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1395C>T
  hgvsp: ENST00000427332.2:c.1395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1563C>T
  hgvsp: ENST00000380610.4:c.1563C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1461C>T
  hgvsp: ENST00000552960.1:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1512C>T
  hgvsp: ENST00000080059.7:c.1512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.1022C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*601C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448305
  ensembl transcript: ENST00000548938
  gene symbol: HDAC7
  hgvsc: ENST00000548938.1:c.8C>T
  hgvsp: ENST00000548938.1:c.8C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1401C>T
  hgvsp: ENST00000354334.3:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17851
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6050
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16576
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr504Thr
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

12-48187329-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48187329
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48187329
    reference: chr 12
allele count: 215
allele frequency: 1.348808030112923e-2
allele num: 15940
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1501C>T
  hgvsp: ENSP00000080059.7:p.Arg501Trp
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1390C>T
  hgvsp: ENSP00000351326.3:p.Arg464Trp
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1552C>T
  hgvsp: ENSP00000369984.4:p.Arg518Trp
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1384C>T
  hgvsp: ENSP00000404394.2:p.Arg462Trp
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1450C>T
  hgvsp: ENSP00000448532.1:p.Arg484Trp
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*590C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.1011C>T
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13281
  bin: 2.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 7.5e0
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 11779
  bin: 7.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg501Trp
num of homozygotes: 4
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

12-48187336-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48187336
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48187336
    reference: chr 12
allele count: 1
allele frequency: 6.38895987733197e-5
allele num: 15652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.1004G>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1383G>C
  hgvsp: ENST00000354334.3:c.1383G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1545G>C
  hgvsp: ENST00000380610.4:c.1545G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1377G>C
  hgvsp: ENST00000427332.2:c.1377G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1443G>C
  hgvsp: ENST00000552960.1:c.1443G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1494G>C
  hgvsp: ENST00000080059.7:c.1494G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*583G>C
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11832
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10449
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg498Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-48187337-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48187337
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48187337
    reference: chr 12
allele count: 3
allele frequency: 1.915219611848825e-4
allele num: 15664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1376G>A
  hgvsp: ENSP00000404394.2:p.Arg459Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1493G>A
  hgvsp: ENSP00000080059.7:p.Arg498Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1442G>A
  hgvsp: ENSP00000448532.1:p.Arg481Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.1003G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1544G>A
  hgvsp: ENSP00000369984.4:p.Arg515Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*582G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1382G>A
  hgvsp: ENSP00000351326.3:p.Arg461Gln
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11596
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Arg498Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

12-48187349-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48187349
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48187349
    reference: chr 12
allele count: 2
allele frequency: 1.32520540683806e-4
allele num: 15092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1370G>A
  hgvsp: ENSP00000351326.3:p.Arg457Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*570G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1481G>A
  hgvsp: ENSP00000080059.7:p.Arg494Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1364G>A
  hgvsp: ENSP00000404394.2:p.Arg455Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1430G>A
  hgvsp: ENSP00000448532.1:p.Arg477Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.991G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1532G>A
  hgvsp: ENSP00000369984.4:p.Arg511Gln
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9442
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2901
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4548
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8360
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg494Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-48187384-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48187384
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48187384
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 11956
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.969-13A>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1348-13A>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1510-13A>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1459-13A>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*548-13A>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1342-13A>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1408-13A>C
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/12-48188493-CCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188493
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188491
    reference: chr 12
allele count: 1
allele frequency: 9.878689690599439e-6
allele num: 101228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1347+48_1347+49delTG
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.968+48_968+49delTG
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1341+48_1341+49delTG
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1509+48_1509+49delTG
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*547+48_*547+49delTG
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1407+48_1407+49delTG
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1458+48_1458+49delTG
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4690
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4015
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4590
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: CCA
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

12-48188512-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188512
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188512
    reference: chr 12
allele count: 1
allele frequency: 9.742220836661926e-6
allele num: 102646
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1458+31G>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1341+31G>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*547+31G>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1407+31G>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1347+31G>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1509+31G>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.968+31G>C
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22003
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

12-48188512-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188512
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188512
    reference: chr 12
allele count: 1
allele frequency: 9.742220836661926e-6
allele num: 102646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1347+31G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*547+31G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1407+31G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1458+31G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.968+31G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1509+31G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1341+31G>A
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10711
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

12-48188537-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188537
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188537
    reference: chr 12
allele count: 1
allele frequency: 9.287465636377146e-6
allele num: 107672
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1458+6G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*547+6G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1509+6G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.968+6G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1407+6G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1347+6G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1341+6G>A
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2887
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1458+6G>A
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-48188555-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188555
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188555
    reference: chr 12
allele count: 2
allele frequency: 1.799856011519078e-5
allele num: 111120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*535G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.956G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1395G>A
  hgvsp: ENST00000552960.1:c.1395G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1329G>A
  hgvsp: ENST00000427332.2:c.1329G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1497G>A
  hgvsp: ENST00000380610.4:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1446G>A
  hgvsp: ENST00000080059.7:c.1446G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1335G>A
  hgvsp: ENST00000354334.3:c.1335G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln482Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

12-48188558-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188558
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188558
    reference: chr 12
allele count: 2
allele frequency: 1.789773235731033e-5
allele num: 111746
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1443C>G
  hgvsp: ENST00000080059.7:c.1443C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1392C>G
  hgvsp: ENST00000552960.1:c.1392C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1326C>G
  hgvsp: ENST00000427332.2:c.1326C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*532C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.953C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1332C>G
  hgvsp: ENST00000354334.3:c.1332C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1494C>G
  hgvsp: ENST00000380610.4:c.1494C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7955
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu481Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-48188559-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188559
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188559
    reference: chr 12
allele count: 1
allele frequency: 8.93415527561869e-6
allele num: 111930
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1442T>A
  hgvsp: ENSP00000080059.7:p.Leu481His
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1331T>A
  hgvsp: ENSP00000351326.3:p.Leu444His
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1325T>A
  hgvsp: ENSP00000404394.2:p.Leu442His
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1391T>A
  hgvsp: ENSP00000448532.1:p.Leu464His
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*531T>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.952T>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1493T>A
  hgvsp: ENSP00000369984.4:p.Leu498His
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu481His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

12-48188566-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188566
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188566
    reference: chr 12
allele count: 2
allele frequency: 1.774559909142533e-5
allele num: 112704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1318G>A
  hgvsp: ENSP00000404394.2:p.Ala440Thr
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1324G>A
  hgvsp: ENSP00000351326.3:p.Ala442Thr
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1435G>A
  hgvsp: ENSP00000080059.7:p.Ala479Thr
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1384G>A
  hgvsp: ENSP00000448532.1:p.Ala462Thr
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1486G>A
  hgvsp: ENSP00000369984.4:p.Ala496Thr
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.945G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*524G>A
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28232
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3030
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4054
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala479Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

12-48188567-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188567
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188567
    reference: chr 12
allele count: 5
allele frequency: 4.407305549679148e-5
allele num: 113448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1383C>T
  hgvsp: ENST00000552960.1:c.1383C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*523C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1323C>T
  hgvsp: ENST00000354334.3:c.1323C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.944C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1485C>T
  hgvsp: ENST00000380610.4:c.1485C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1434C>T
  hgvsp: ENST00000080059.7:c.1434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1317C>T
  hgvsp: ENST00000427332.2:c.1317C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29443
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Pro478Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

12-48188567-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188567
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188567
    reference: chr 12
allele count: 6
allele frequency: 5.288766659614978e-5
allele num: 113448
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1434C>G
  hgvsp: ENST00000080059.7:c.1434C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1317C>G
  hgvsp: ENST00000427332.2:c.1317C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1323C>G
  hgvsp: ENST00000354334.3:c.1323C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1485C>G
  hgvsp: ENST00000380610.4:c.1485C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.944C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*523C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1383C>G
  hgvsp: ENST00000552960.1:c.1383C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro478Pro
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

12-48188569-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188569
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188569
    reference: chr 12
allele count: 28
allele frequency: 2.456916219156927e-4
allele num: 113964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1483C>T
  hgvsp: ENSP00000369984.4:p.Pro495Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1381C>T
  hgvsp: ENSP00000448532.1:p.Pro461Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*521C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1321C>T
  hgvsp: ENSP00000351326.3:p.Pro441Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.942C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1315C>T
  hgvsp: ENSP00000404394.2:p.Pro439Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1432C>T
  hgvsp: ENSP00000080059.7:p.Pro478Ser
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7428
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro478Ser
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-48188573-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188573
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188573
    reference: chr 12
allele count: 1
allele frequency: 8.70852564660803e-6
allele num: 114830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1377A>T
  hgvsp: ENSP00000448532.1:p.Arg459Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.938A>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1317A>T
  hgvsp: ENSP00000351326.3:p.Arg439Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*517A>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1311A>T
  hgvsp: ENSP00000404394.2:p.Arg437Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1479A>T
  hgvsp: ENSP00000369984.4:p.Arg493Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1428A>T
  hgvsp: ENSP00000080059.7:p.Arg476Ser
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg476Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

12-48188586-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188586
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188586
    reference: chr 12
allele count: 1
allele frequency: 8.555637309423178e-6
allele num: 116882
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1466A>C
  hgvsp: ENSP00000369984.4:p.Gln489Pro
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1364A>C
  hgvsp: ENSP00000448532.1:p.Gln455Pro
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1298A>C
  hgvsp: ENSP00000404394.2:p.Gln433Pro
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.925A>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1415A>C
  hgvsp: ENSP00000080059.7:p.Gln472Pro
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1304A>C
  hgvsp: ENSP00000351326.3:p.Gln435Pro
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*504A>C
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2982
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln472Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-48188588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188588
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188588
    reference: chr 12
allele count: 1
allele frequency: 8.540001366400219e-6
allele num: 117096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*502G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.923G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1362G>A
  hgvsp: ENST00000552960.1:c.1362G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1302G>A
  hgvsp: ENST00000354334.3:c.1302G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1296G>A
  hgvsp: ENST00000427332.2:c.1296G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1464G>A
  hgvsp: ENST00000380610.4:c.1464G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1413G>A
  hgvsp: ENST00000080059.7:c.1413G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30263
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3040
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly471Gly
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-48188589-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188589
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188589
    reference: chr 12
allele count: 59
allele frequency: 5.030609982776556e-4
allele num: 117282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1295G>T
  hgvsp: ENSP00000404394.2:p.Gly432Val
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*501G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1412G>T
  hgvsp: ENSP00000080059.7:p.Gly471Val
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1361G>T
  hgvsp: ENSP00000448532.1:p.Gly454Val
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.922G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1301G>T
  hgvsp: ENSP00000351326.3:p.Gly434Val
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1463G>T
  hgvsp: ENSP00000369984.4:p.Gly488Val
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30317
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14876
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2976
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly471Val
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-48188606-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188606
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188606
    reference: chr 12
allele count: 1
allele frequency: 8.444519506840061e-6
allele num: 118420
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*484C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.905C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.532C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1278C>G
  hgvsp: ENSP00000404394.2:p.His426Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1284C>G
  hgvsp: ENSP00000351326.3:p.His428Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1446C>G
  hgvsp: ENSP00000369984.4:p.His482Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1344C>G
  hgvsp: ENSP00000448532.1:p.His448Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1395C>G
  hgvsp: ENSP00000080059.7:p.His465Gln
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His465Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

12-48188607-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188607
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188607
    reference: chr 12
allele count: 1
allele frequency: 8.442523301364311e-6
allele num: 118448
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1343A>G
  hgvsp: ENSP00000448532.1:p.His448Arg
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.904A>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1283A>G
  hgvsp: ENSP00000351326.3:p.His428Arg
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.531A>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*483A>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1277A>G
  hgvsp: ENSP00000404394.2:p.His426Arg
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1445A>G
  hgvsp: ENSP00000369984.4:p.His482Arg
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1394A>G
  hgvsp: ENSP00000080059.7:p.His465Arg
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3306
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His465Arg
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: T
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-48188616-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188616
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188616
    reference: chr 12
allele count: 1
allele frequency: 8.428860418071477e-6
allele num: 118640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1268G>C
  hgvsp: ENSP00000404394.2:p.Gly423Ala
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*474G>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1334G>C
  hgvsp: ENSP00000448532.1:p.Gly445Ala
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1274G>C
  hgvsp: ENSP00000351326.3:p.Gly425Ala
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1436G>C
  hgvsp: ENSP00000369984.4:p.Gly479Ala
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.522G>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.895G>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1385G>C
  hgvsp: ENSP00000080059.7:p.Gly462Ala
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32964
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2977
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly462Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-48188616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188616
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188616
    reference: chr 12
allele count: 1
allele frequency: 8.428860418071477e-6
allele num: 118640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.895G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.522G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1436G>A
  hgvsp: ENSP00000369984.4:p.Gly479Asp
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1334G>A
  hgvsp: ENSP00000448532.1:p.Gly445Asp
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*474G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1385G>A
  hgvsp: ENSP00000080059.7:p.Gly462Asp
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1268G>A
  hgvsp: ENSP00000404394.2:p.Gly423Asp
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1274G>A
  hgvsp: ENSP00000351326.3:p.Gly425Asp
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32964
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly462Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

12-48188618-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188618
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188618
    reference: chr 12
allele count: 86
allele frequency: 7.246254697426737e-4
allele num: 118682
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1383T>C
  hgvsp: ENST00000080059.7:c.1383T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.520T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1266T>C
  hgvsp: ENST00000427332.2:c.1266T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1272T>C
  hgvsp: ENST00000354334.3:c.1272T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*472T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1434T>C
  hgvsp: ENST00000380610.4:c.1434T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.893T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1332T>C
  hgvsp: ENST00000552960.1:c.1332T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7606
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp461Asp
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-48188620-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188620
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188620
    reference: chr 12
allele count: 1
allele frequency: 8.423464402439436e-6
allele num: 118716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1330G>A
  hgvsp: ENSP00000448532.1:p.Asp444Asn
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.891G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1264G>A
  hgvsp: ENSP00000404394.2:p.Asp422Asn
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.558G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1270G>A
  hgvsp: ENSP00000351326.3:p.Asp424Asn
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.518G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1381G>A
  hgvsp: ENSP00000080059.7:p.Asp461Asn
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1432G>A
  hgvsp: ENSP00000369984.4:p.Asp478Asn
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*470G>A
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp461Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

12-48188621-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188621
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188621
    reference: chr 12
allele count: 28
allele frequency: 2.358411104747145e-4
allele num: 118724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.517C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1263C>T
  hgvsp: ENST00000427332.2:c.1263C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.557C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1431C>T
  hgvsp: ENST00000380610.4:c.1431C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1269C>T
  hgvsp: ENST00000354334.3:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.890C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1329C>T
  hgvsp: ENST00000552960.1:c.1329C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1380C>T
  hgvsp: ENST00000080059.7:c.1380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*469C>T
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30684
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp460Asp
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

12-48188624-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188624
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188624
    reference: chr 12
allele count: 3
allele frequency: 2.525465106490445e-5
allele num: 118790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1266G>A
  hgvsp: ENST00000354334.3:c.1266G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1428G>A
  hgvsp: ENST00000380610.4:c.1428G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1326G>A
  hgvsp: ENST00000552960.1:c.1326G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*466G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.554G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.887G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1377G>A
  hgvsp: ENST00000080059.7:c.1377G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1260G>A
  hgvsp: ENST00000427332.2:c.1260G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.514G>A
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val459Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

12-48188637-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188637
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188637
    reference: chr 12
allele count: 3
allele frequency: 2.522874058127018e-5
allele num: 118912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1247C>T
  hgvsp: ENSP00000404394.2:p.Pro416Leu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.541C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1253C>T
  hgvsp: ENSP00000351326.3:p.Pro418Leu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1364C>T
  hgvsp: ENSP00000080059.7:p.Pro455Leu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*453C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1313C>T
  hgvsp: ENSP00000448532.1:p.Pro438Leu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1415C>T
  hgvsp: ENSP00000369984.4:p.Pro472Leu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.874C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.501C>T
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Pro455Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

12-48188637-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188637
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188637
    reference: chr 12
allele count: 1
allele frequency: 8.409580193756727e-6
allele num: 118912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.501C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.541C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*453C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1247C>G
  hgvsp: ENSP00000404394.2:p.Pro416Arg
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1415C>G
  hgvsp: ENSP00000369984.4:p.Pro472Arg
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1313C>G
  hgvsp: ENSP00000448532.1:p.Pro438Arg
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1364C>G
  hgvsp: ENSP00000080059.7:p.Pro455Arg
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1253C>G
  hgvsp: ENSP00000351326.3:p.Pro418Arg
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.874C>G
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro455Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-48188640-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188640
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188640
    reference: chr 12
allele count: 1
allele frequency: 8.404208827780952e-6
allele num: 118988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1310G>T
  hgvsp: ENSP00000448532.1:p.Gly437Val
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1250G>T
  hgvsp: ENSP00000351326.3:p.Gly417Val
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1412G>T
  hgvsp: ENSP00000369984.4:p.Gly471Val
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*450G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.871G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1244G>T
  hgvsp: ENSP00000404394.2:p.Gly415Val
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1361G>T
  hgvsp: ENSP00000080059.7:p.Gly454Val
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.538G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.498G>T
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly454Val
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-48188642-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188642
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188642
    reference: chr 12
allele count: 7
allele frequency: 5.879388543591466e-5
allele num: 119060
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1359G>A
  hgvsp: ENST00000080059.7:c.1359G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*448G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1248G>A
  hgvsp: ENST00000354334.3:c.1248G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1308G>A
  hgvsp: ENST00000552960.1:c.1308G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.869G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1410G>A
  hgvsp: ENST00000380610.4:c.1410G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.536G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1242G>A
  hgvsp: ENST00000427332.2:c.1242G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.496G>A
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30919
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8386
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly453Gly
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-48188644-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188644
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188644
    reference: chr 12
allele count: 1
allele frequency: 8.398703240219711e-6
allele num: 119066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1306G>A
  hgvsp: ENSP00000448532.1:p.Gly436Arg
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1246G>A
  hgvsp: ENSP00000351326.3:p.Gly416Arg
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.534G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.494G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1240G>A
  hgvsp: ENSP00000404394.2:p.Gly414Arg
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1408G>A
  hgvsp: ENSP00000369984.4:p.Gly470Arg
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*446G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.867G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1357G>A
  hgvsp: ENSP00000080059.7:p.Gly453Arg
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly453Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

12-48188647-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188647
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188647
    reference: chr 12
allele count: 1
allele frequency: 8.396587626788473e-6
allele num: 119096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1237G>A
  hgvsp: ENSP00000404394.2:p.Gly413Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1405G>A
  hgvsp: ENSP00000369984.4:p.Gly469Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1303G>A
  hgvsp: ENSP00000448532.1:p.Gly435Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1243G>A
  hgvsp: ENSP00000351326.3:p.Gly415Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*443G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1354G>A
  hgvsp: ENSP00000080059.7:p.Gly452Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.491G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.531G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.864G>A
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8387
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly452Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

12-48188651-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188651
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188651
    reference: chr 12
allele count: 1
allele frequency: 8.39602364320258e-6
allele num: 119104
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1401A>G
  hgvsp: ENST00000380610.4:c.1401A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1350A>G
  hgvsp: ENST00000080059.7:c.1350A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*439A>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.527A>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1239A>G
  hgvsp: ENST00000354334.3:c.1239A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1299A>G
  hgvsp: ENST00000552960.1:c.1299A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1233A>G
  hgvsp: ENST00000427332.2:c.1233A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.860A>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.487A>G
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr450Thr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP

12-48188658-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188658
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188658
    reference: chr 12
allele count: 1
allele frequency: 8.397715821296607e-6
allele num: 119080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.853T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.480T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1343T>C
  hgvsp: ENSP00000080059.7:p.Leu448Pro
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1394T>C
  hgvsp: ENSP00000369984.4:p.Leu465Pro
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.520T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1226T>C
  hgvsp: ENSP00000404394.2:p.Leu409Pro
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*432T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1292T>C
  hgvsp: ENSP00000448532.1:p.Leu431Pro
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*259T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1232T>C
  hgvsp: ENSP00000351326.3:p.Leu411Pro
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu448Pro
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-48188669-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188669
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188669
    reference: chr 12
allele count: 1
allele frequency: 8.412693071305987e-6
allele num: 118868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*248G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1281G>T
  hgvsp: ENST00000552960.1:c.1281G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1221G>T
  hgvsp: ENST00000354334.3:c.1221G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1383G>T
  hgvsp: ENST00000380610.4:c.1383G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*421G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1332G>T
  hgvsp: ENST00000080059.7:c.1332G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.509G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.469G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1215G>T
  hgvsp: ENST00000427332.2:c.1215G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.842G>T
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser444Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

12-48188669-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188669
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188669
    reference: chr 12
allele count: 2
allele frequency: 1.682538614261197e-5
allele num: 118868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*248G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.469G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1281G>A
  hgvsp: ENST00000552960.1:c.1281G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1221G>A
  hgvsp: ENST00000354334.3:c.1221G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1215G>A
  hgvsp: ENST00000427332.2:c.1215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1332G>A
  hgvsp: ENST00000080059.7:c.1332G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.842G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1383G>A
  hgvsp: ENST00000380610.4:c.1383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*421G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.509G>A
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30594
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ser444Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

12-48188670-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188670
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188670
    reference: chr 12
allele count: 3
allele frequency: 2.526358338666757e-5
allele num: 118748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*247C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1280C>T
  hgvsp: ENSP00000448532.1:p.Ser427Leu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1331C>T
  hgvsp: ENSP00000080059.7:p.Ser444Leu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.841C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1382C>T
  hgvsp: ENSP00000369984.4:p.Ser461Leu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1214C>T
  hgvsp: ENSP00000404394.2:p.Ser405Leu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.468C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1220C>T
  hgvsp: ENSP00000351326.3:p.Ser407Leu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.508C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*420C>T
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser444Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-48188673-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188673
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188673
    reference: chr 12
allele count: 1
allele frequency: 8.435970980259829e-6
allele num: 118540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.505C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1211C>T
  hgvsp: ENSP00000404394.2:p.Pro404Leu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1379C>T
  hgvsp: ENSP00000369984.4:p.Pro460Leu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.465C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*244C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*417C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1328C>T
  hgvsp: ENSP00000080059.7:p.Pro443Leu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.838C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1277C>T
  hgvsp: ENSP00000448532.1:p.Pro426Leu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1217C>T
  hgvsp: ENSP00000351326.3:p.Pro406Leu
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro443Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

12-48188682-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188682
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188682
    reference: chr 12
allele count: 10
allele frequency: 8.483203257550051e-5
allele num: 117880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1268G>A
  hgvsp: ENSP00000448532.1:p.Arg423Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.456G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1208G>A
  hgvsp: ENSP00000351326.3:p.Arg403Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1319G>A
  hgvsp: ENSP00000080059.7:p.Arg440Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1370G>A
  hgvsp: ENSP00000369984.4:p.Arg457Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1202G>A
  hgvsp: ENSP00000404394.2:p.Arg401Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*235G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*408G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.829G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.496G>A
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg440Gln
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

12-48188683-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188683
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188683
    reference: chr 12
allele count: 12
allele frequency: 1.019004432669282e-4
allele num: 117762
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1318C>T
  hgvsp: ENSP00000080059.7:p.Arg440Trp
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.828C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*234C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.495C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1267C>T
  hgvsp: ENSP00000448532.1:p.Arg423Trp
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.455C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1207C>T
  hgvsp: ENSP00000351326.3:p.Arg403Trp
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*407C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1201C>T
  hgvsp: ENSP00000404394.2:p.Arg401Trp
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1369C>T
  hgvsp: ENSP00000369984.4:p.Arg457Trp
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg440Trp
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

12-48188688-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188688
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188688
    reference: chr 12
allele count: 1
allele frequency: 8.530821859377933e-6
allele num: 117222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1202G>A
  hgvsp: ENSP00000351326.3:p.Arg401Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*229G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*402G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.450G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1262G>A
  hgvsp: ENSP00000448532.1:p.Arg421Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.823G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1313G>A
  hgvsp: ENSP00000080059.7:p.Arg438Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.490G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1364G>A
  hgvsp: ENSP00000369984.4:p.Arg455Gln
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1196G>A
  hgvsp: ENSP00000404394.2:p.Arg399Gln
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg438Gln
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

12-48188689-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188689
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188689
    reference: chr 12
allele count: 5
allele frequency: 4.266502832957881e-5
allele num: 117192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.822C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1195C>T
  hgvsp: ENSP00000404394.2:p.Arg399Trp
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1312C>T
  hgvsp: ENSP00000080059.7:p.Arg438Trp
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.489C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.449C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1363C>T
  hgvsp: ENSP00000369984.4:p.Arg455Trp
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1201C>T
  hgvsp: ENSP00000351326.3:p.Arg401Trp
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*401C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1261C>T
  hgvsp: ENSP00000448532.1:p.Arg421Trp
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*228C>T
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg438Trp
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS

12-48188692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188692
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188692
    reference: chr 12
allele count: 2
allele frequency: 1.711156741957563e-5
allele num: 116880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.486C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.819C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.446C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1198C>T
  hgvsp: ENSP00000351326.3:p.Pro400Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1258C>T
  hgvsp: ENSP00000448532.1:p.Pro420Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1309C>T
  hgvsp: ENSP00000080059.7:p.Pro437Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1192C>T
  hgvsp: ENSP00000404394.2:p.Pro398Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*398C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1360C>T
  hgvsp: ENSP00000369984.4:p.Pro454Ser
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*225C>T
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8218
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro437Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

12-48188692-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188692
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188692
    reference: chr 12
allele count: 2
allele frequency: 1.711156741957563e-5
allele num: 116880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.446C>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1258C>A
  hgvsp: ENSP00000448532.1:p.Pro420Thr
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1309C>A
  hgvsp: ENSP00000080059.7:p.Pro437Thr
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*398C>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*225C>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1192C>A
  hgvsp: ENSP00000404394.2:p.Pro398Thr
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.819C>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1198C>A
  hgvsp: ENSP00000351326.3:p.Pro400Thr
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.486C>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1360C>A
  hgvsp: ENSP00000369984.4:p.Pro454Thr
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro437Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-48188702-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188702
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188702
    reference: chr 12
allele count: 4
allele frequency: 3.476930565696603e-5
allele num: 115044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1350G>A
  hgvsp: ENST00000380610.4:c.1350G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*215G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1299G>A
  hgvsp: ENST00000080059.7:c.1299G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.436G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.809G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*388G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1182G>A
  hgvsp: ENST00000427332.2:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1248G>A
  hgvsp: ENST00000552960.1:c.1248G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.476G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1188G>A
  hgvsp: ENST00000354334.3:c.1188G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14369
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro433Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-48188703-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188703
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188703
    reference: chr 12
allele count: 11
allele frequency: 9.57037707285667e-5
allele num: 114938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*387C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1181C>T
  hgvsp: ENSP00000404394.2:p.Pro394Leu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*214C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1247C>T
  hgvsp: ENSP00000448532.1:p.Pro416Leu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.435C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1349C>T
  hgvsp: ENSP00000369984.4:p.Pro450Leu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.808C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1298C>T
  hgvsp: ENSP00000080059.7:p.Pro433Leu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1187C>T
  hgvsp: ENSP00000351326.3:p.Pro396Leu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.475C>T
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro433Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-48188707-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188707
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188707
    reference: chr 12
allele count: 1
allele frequency: 8.731184297838158e-6
allele num: 114532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*210A>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1177A>G
  hgvsp: ENSP00000404394.2:p.Lys393Glu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*383A>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1294A>G
  hgvsp: ENSP00000080059.7:p.Lys432Glu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1183A>G
  hgvsp: ENSP00000351326.3:p.Lys395Glu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1345A>G
  hgvsp: ENSP00000369984.4:p.Lys449Glu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.431A>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.804A>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1243A>G
  hgvsp: ENSP00000448532.1:p.Lys415Glu
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.471A>G
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4135
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys432Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

12-48188709-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188709
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188709
    reference: chr 12
allele count: 1
allele frequency: 8.768084173608067e-6
allele num: 114050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*381C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1292C>G
  hgvsp: ENSP00000080059.7:p.Ala431Gly
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1241C>G
  hgvsp: ENSP00000448532.1:p.Ala414Gly
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1175C>G
  hgvsp: ENSP00000404394.2:p.Ala392Gly
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*208C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.429C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1343C>G
  hgvsp: ENSP00000369984.4:p.Ala448Gly
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.802C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.469C>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1181C>G
  hgvsp: ENSP00000351326.3:p.Ala394Gly
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28817
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala431Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

12-48188713-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188713
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188713
    reference: chr 12
allele count: 1
allele frequency: 8.810883202932263e-6
allele num: 113496
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1177T>C
  hgvsp: ENSP00000351326.3:p.Ser393Pro
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1171T>C
  hgvsp: ENSP00000404394.2:p.Ser391Pro
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.798T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*204T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1237T>C
  hgvsp: ENSP00000448532.1:p.Ser413Pro
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.465T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.425T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*377T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1288T>C
  hgvsp: ENSP00000080059.7:p.Ser430Pro
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1339T>C
  hgvsp: ENSP00000369984.4:p.Ser447Pro
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser430Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-48188728-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188728
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188728
    reference: chr 12
allele count: 1
allele frequency: 8.92968763952637e-6
allele num: 111986
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1285-12T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*374-12T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.462-12T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1168-12T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1174-12T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*201-12T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.422-12T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1234-12T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1336-12T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.795-12T>C
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4111
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

12-48188729-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188729
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188729
    reference: chr 12
allele count: 2
allele frequency: 1.791889906284158e-5
allele num: 111614
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1285-13C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1336-13C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.462-13C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1174-13C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1234-13C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.422-13C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.795-13C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*201-13C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*374-13C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1168-13C>T
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

12-48188730-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188730
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188730
    reference: chr 12
allele count: 4
allele frequency: 3.582880994607764e-5
allele num: 111642
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.422-14T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1336-14T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1168-14T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1285-14T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1234-14T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.462-14T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1174-14T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*201-14T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.795-14T>C
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*374-14T>C
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5423
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

12-48188735-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188735
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188735
    reference: chr 12
allele count: 1
allele frequency: 8.992482284809899e-6
allele num: 111204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1168-19C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.462-19C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1285-19C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1174-19C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1234-19C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.795-19C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*374-19C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1336-19C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*201-19C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.422-19C>T
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26940
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

12-48188748-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188748
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188748
    reference: chr 12
allele count: 3
allele frequency: 2.745342069621875e-5
allele num: 109276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.795-32A>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.462-32A>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1168-32A>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1285-32A>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.422-32A>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1336-32A>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1174-32A>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*201-32A>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1234-32A>G
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*374-32A>G
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-48188749-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188749
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188749
    reference: chr 12
allele count: 1
allele frequency: 9.199293494259642e-6
allele num: 108704
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1174-33C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*201-33C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.795-33C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.462-33C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1234-33C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1336-33C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*374-33C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1168-33C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.422-33C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1285-33C>T
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13151
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4091
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/12-48188756-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188756
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188756
    reference: chr 12
allele count: 1
allele frequency: 9.284189026088571e-6
allele num: 107710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*201-40G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*374-40G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1285-40G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.795-40G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1174-40G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1336-40G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1168-40G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1234-40G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.462-40G>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.422-40G>T
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25021
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-48188756-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188756
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188756
    reference: chr 12
allele count: 2
allele frequency: 1.856837805217714e-5
allele num: 107710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.462-40G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1234-40G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*201-40G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.795-40G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1285-40G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1174-40G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*374-40G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1168-40G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1336-40G>A
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.422-40G>A
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24787
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7695
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

12-48188757-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188757
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188757
    reference: chr 12
allele count: 8
allele frequency: 7.436326454731363e-5
allele num: 107580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*374-41C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1234-41C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1174-41C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1336-41C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.422-41C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.462-41C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1285-41C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.795-41C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1168-41C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*201-41C>T
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24738
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-48188767-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48188767
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48188767
    reference: chr 12
allele count: 1
allele frequency: 9.351737552837317e-6
allele num: 106932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000470668
  gene symbol: HDAC7
  hgvsc: ENST00000470668.1:n.795-51C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000080059
  ensembl transcript: ENST00000080059
  gene symbol: HDAC7
  hgvsc: ENST00000080059.7:c.1285-51C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000351326
  ensembl transcript: ENST00000354334
  gene symbol: HDAC7
  hgvsc: ENST00000354334.3:c.1174-51C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000369984
  ensembl transcript: ENST00000380610
  gene symbol: HDAC7
  hgvsc: ENST00000380610.4:c.1336-51C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448448
  ensembl transcript: ENST00000485796
  gene symbol: HDAC7
  hgvsc: ENST00000485796.1:c.*201-51C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000404394
  ensembl transcript: ENST00000427332
  gene symbol: HDAC7
  hgvsc: ENST00000427332.2:c.1168-51C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000449171
  ensembl transcript: ENST00000477203
  gene symbol: HDAC7
  hgvsc: ENST00000477203.2:c.*374-51C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000463732
  gene symbol: HDAC7
  hgvsc: ENST00000463732.1:n.462-51C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl protein: ENSP00000448532
  ensembl transcript: ENST00000552960
  gene symbol: HDAC7
  hgvsc: ENST00000552960.1:c.1234-51C>T
  variant of: http://identifiers.org/hgnc/14067
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061273
  ensembl transcript: ENST00000491464
  gene symbol: HDAC7
  hgvsc: ENST00000491464.1:n.422-51C>T
  variant of: http://identifiers.org/hgnc/14067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G

GenotypeQuality
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1424
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27732
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1175
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 328
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 240
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 4180
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 139
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6337
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.161103047895501e-3
allele num: 6890
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 5.429417571569595e-3
allele num: 2026
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7986
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.13896e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.007e0

QD
type: SiteQuality
SIO_000300: 4.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.287e0

VQSLOD
type: SiteQuality
SIO_000300: -2.094e2

MQ
type: SiteQuality
SIO_000300: 5.75e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.45e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 3.70277e5

GenotypeQuality
all individuals: 23
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6755
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5350
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29810
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7074
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.2387e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.240000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.485e1

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 24
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 137
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 675
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1919
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3362
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6684
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.460706982179375e-4
allele num: 6846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.97954e5

MQ
type: SiteQuality
SIO_000300: 5.883e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.51e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

QD
type: SiteQuality
SIO_000300: 1.063e1

VQSLOD
type: SiteQuality
SIO_000300: -9.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

GenotypeQuality
all individuals: 25972
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 223
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2857
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.937720329024677e-4
allele num: 6808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7872
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.726e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.652e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 2.642e0

DP
type: SiteQuality
SIO_000300: 2.92104e5

QD
type: SiteQuality
SIO_000300: 9.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.539999999999999e-2

GenotypeQuality
all individuals: 325
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 213
bin: 2.75e1
variant carriers: 6

GenotypeQuality
all individuals: 143
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2165
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 9.75e1
variant carriers: 55

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2509
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 49
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6544
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 7.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7862
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 51
allele frequency: 7.609668755595345e-3
allele num: 6702
num of homozygotes: 1

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

African
type: Population
allele count: 1
allele frequency: 4.793863854266539e-4
allele num: 2086
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.42e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

FS
type: SiteQuality
SIO_000300: 5.580000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

QD
type: SiteQuality
SIO_000300: 1.226e1

DP
type: SiteQuality
SIO_000300: 2.81541e5

GenotypeQuality
all individuals: 252
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 235
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18021
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1836
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1964
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.282051282051282e-4
allele num: 7800
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.17e-2

MQ
type: SiteQuality
SIO_000300: 5.907e1

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.756e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.264e0

FS
type: SiteQuality
SIO_000300: 1.034e0

QD
type: SiteQuality
SIO_000300: 1.267e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.457e0

DP
type: SiteQuality
SIO_000300: 2.5021e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e0

GenotypeQuality
all individuals: 115
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6157
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18229
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1894
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.563445270443476e-4
allele num: 7802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1984
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.194e0

QD
type: SiteQuality
SIO_000300: 1.037e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.12e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 2.50225e5

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 7.25e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 220
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 110
bin: 7.75e1
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GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
all individuals: 7
bin: 8.75e1
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GenotypeQuality
all individuals: 220
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.304147465437788e-3
allele num: 434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.577984016499098e-4
allele num: 7758
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.96e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

FS
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 2.40509e5

VQSLOD
type: SiteQuality
SIO_000300: -1.982e0

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 6.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 109
bin: 7.75e1
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GenotypeQuality
all individuals: 50
bin: 4.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 45
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.40544e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.443e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.88e-2

QD
type: SiteQuality
SIO_000300: 8.94e0

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

GenotypeQuality
all individuals: 5404
bin: 6.25e1
variant carriers: 2

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 82
bin: 4.25e1
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GenotypeQuality
all individuals: 197
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 8
bin: 8.75e1
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GenotypeQuality
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variant carriers: 209

GenotypeQuality
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bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 3

Latino
type: Population
allele count: 3
allele frequency: 1.013513513513514e-2
allele num: 296
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 5.190311418685121e-3
allele num: 1734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 1.204819277108434e-2
allele num: 166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 100
allele frequency: 1.73190162798753e-2
allele num: 5774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

South Asian
type: Population
allele count: 101
allele frequency: 1.339877951711329e-2
allele num: 7538
num of homozygotes: 4

FS
type: SiteQuality
SIO_000300: 5.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

DP
type: SiteQuality
SIO_000300: 2.23085e5

QD
type: SiteQuality
SIO_000300: 1.31e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.51e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

GenotypeQuality
all individuals: 96
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1567
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GenotypeQuality
all individuals: 106
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GenotypeQuality
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GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 198
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.768033946251768e-4
allele num: 5656
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.11147e5

QD
type: SiteQuality
SIO_000300: 1.377e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.79e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.261e-1

MQ
type: SiteQuality
SIO_000300: 5.757e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 10224
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GenotypeQuality
all individuals: 111
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variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 501
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GenotypeQuality
all individuals: 5165
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variant carriers: 1

GenotypeQuality
all individuals: 171
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 1.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.517411185367569e-4
allele num: 5686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.359434475258292e-4
allele num: 7356
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1748
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

DP
type: SiteQuality
SIO_000300: 2.10018e5

BaseQRankSum
type: SiteQuality
SIO_000300: 6.69e-1

QD
type: SiteQuality
SIO_000300: 1.176e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.56e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e-1

GenotypeQuality
all individuals: 411
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 104
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GenotypeQuality
all individuals: 70
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GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 104
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GenotypeQuality
all individuals: 107
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GenotypeQuality
all individuals: 195
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variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.903600464576074e-4
allele num: 6888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1726
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.95005e5

MQRankSum
type: SiteQuality
SIO_000300: -7.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.14e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.12e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

VQSLOD
type: SiteQuality
SIO_000300: -1.368e0

QD
type: SiteQuality
SIO_000300: 1.161e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.25e-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
all individuals: 14
bin: 9.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5136
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.96e0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.64e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 1.3732e5

QD
type: SiteQuality
SIO_000300: 1.905e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2260
bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 2244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5776
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.141813199360585e-4
allele num: 8758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58472
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.182989e6

MQ
type: SiteQuality
SIO_000300: 6.01e1

GenotypeQuality
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bin: 2.5e0
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: 1.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1401
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2548
bin: 8.25e1
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GenotypeQuality
all individuals: 2933
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5910
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.690960127160202e-5
allele num: 59138
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.195e0

VQSLOD
type: SiteQuality
SIO_000300: 5.48e-1

DP
type: SiteQuality
SIO_000300: 1.296162e6

QD
type: SiteQuality
SIO_000300: 1.189e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.46e-1

FS
type: SiteQuality
SIO_000300: 2.234e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 708
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1749
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2469
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2933
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3487
bin: 7.75e1
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GenotypeQuality
all individuals: 444
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variant carriers: 0

GenotypeQuality
all individuals: 2548
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5910
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8992
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9114
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.243162605668821e-4
allele num: 8044
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.234e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.195e0

MQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

DP
type: SiteQuality
SIO_000300: 1.296162e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.48e-1

QD
type: SiteQuality
SIO_000300: 1.189e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.46e-1

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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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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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: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61496
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.867771857114664e-5
allele num: 10134
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.393e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e0

DP
type: SiteQuality
SIO_000300: 1.415684e6

FS
type: SiteQuality
SIO_000300: 4.576e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.51e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11806
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.190912281821372e-5
allele num: 62678
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.453655e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.744e0

MQRankSum
type: SiteQuality
SIO_000300: -6.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.820000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.513e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.939e0

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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variant carriers: 2

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.357934449422306e-4
allele num: 8482
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12236
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 1.86e0

VQSLOD
type: SiteQuality
SIO_000300: 6.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

QD
type: SiteQuality
SIO_000300: 1.456e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

DP
type: SiteQuality
SIO_000300: 1.458864e6

GenotypeQuality
all individuals: 4609
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variant carriers: 0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3237
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12348
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.036269430051813e-4
allele num: 9650
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.909e0

FS
type: SiteQuality
SIO_000300: 2.114e0

QD
type: SiteQuality
SIO_000300: 1.353e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

VQSLOD
type: SiteQuality
SIO_000300: 3.73e-1

DP
type: SiteQuality
SIO_000300: 1.460976e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.05e-1

GenotypeQuality
all individuals: 445
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 641
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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
all individuals: 7963
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GenotypeQuality
all individuals: 2943
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.176470588235294e-4
allele num: 8500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12866
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.586495748191395e-5
allele num: 63032
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.43e-1

QD
type: SiteQuality
SIO_000300: 7.77e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.357e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.532e0

DP
type: SiteQuality
SIO_000300: 1.472376e6

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

South Asian
type: Population
allele count: 2
allele frequency: 1.500600240096038e-4
allele num: 13328
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.581878005568211e-5
allele num: 63216
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.058036633052068e-4
allele num: 9718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

FS
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 4.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 1.478539e6

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

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
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allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.288207297726071e-4
allele num: 11346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63216
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6524
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South Asian
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.478539e6

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63400
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.807468733485996e-5
allele num: 11354
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South Asian
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Other
type: Population
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allele num: 814
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East Asian
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allele count: 27
allele frequency: 3.171992481203007e-3
allele num: 8512
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.038e0

ClippingRankSum
type: SiteQuality
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 7.23e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

DP
type: SiteQuality
SIO_000300: 1.483075e6

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570697075362046e-5
allele num: 63666
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14132
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.409e1

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.491382e6

FS
type: SiteQuality
SIO_000300: 7.218e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4161
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3272
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1536
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32096
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555355087566491e-5
allele num: 64294
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15334
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.334e1

FS
type: SiteQuality
SIO_000300: 3.414e0

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.158e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.514239e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.74e-1

GenotypeQuality
all individuals: 335
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2245
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1537
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3276
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.474168069403081e-5
allele num: 15446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.357e-1

DP
type: SiteQuality
SIO_000300: 1.517465e6

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e0

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

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
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variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3287
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3094
bin: 9.75e1
variant carriers: 59

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.7243947858473e-4
allele num: 64440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15550
num of homozygotes: 0

Latino
type: Population
allele count: 33
allele frequency: 2.888149833712586e-3
allele num: 11426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.043213633597079e-4
allele num: 6572
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.522332e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

QD
type: SiteQuality
SIO_000300: 1.403e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3059
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2974
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4165
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variant carriers: 0

GenotypeQuality
all individuals: 8357
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
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variant carriers: 0

GenotypeQuality
all individuals: 1730
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variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
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variant carriers: 0

GenotypeQuality
all individuals: 1279
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variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542686125080991e-5
allele num: 64822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16170
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.06e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.274e0

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

FS
type: SiteQuality
SIO_000300: 8.265000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 9.9e-1

DP
type: SiteQuality
SIO_000300: 1.532877e6

GenotypeQuality
all individuals: 112
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1740
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4166
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 2974
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variant carriers: 0

GenotypeQuality
all individuals: 210
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variant carriers: 0

GenotypeQuality
all individuals: 3060
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1541
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variant carriers: 0

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 8358
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.009081735620585e-4
allele num: 9910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16198
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64836
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

MQ
type: SiteQuality
SIO_000300: 5.796e1

QD
type: SiteQuality
SIO_000300: 1.14e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

DP
type: SiteQuality
SIO_000300: 1.532678e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.786999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

GenotypeQuality
all individuals: 235
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 8354
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
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variant carriers: 0

GenotypeQuality
all individuals: 106
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variant carriers: 0

GenotypeQuality
all individuals: 101
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variant carriers: 0

GenotypeQuality
all individuals: 258
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variant carriers: 0

GenotypeQuality
all individuals: 1645
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variant carriers: 0

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

GenotypeQuality
all individuals: 160
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variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4169
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64874
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.116956202593589e-5
allele num: 16348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.738e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e0

DP
type: SiteQuality
SIO_000300: 1.533829e6

MQ
type: SiteQuality
SIO_000300: 5.987e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.9e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.44e-1

QD
type: SiteQuality
SIO_000300: 1.228e1

GenotypeQuality
all individuals: 8354
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3310
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variant carriers: 0

GenotypeQuality
all individuals: 142
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variant carriers: 0

GenotypeQuality
all individuals: 108
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GenotypeQuality
all individuals: 1540
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4169
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
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variant carriers: 0

GenotypeQuality
all individuals: 3063
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2977
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.533829e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.228e1

VQSLOD
type: SiteQuality
SIO_000300: -8.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.44e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

FS
type: SiteQuality
SIO_000300: 4.738e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
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GenotypeQuality
all individuals: 1649
bin: 2.25e1
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GenotypeQuality
all individuals: 4161
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variant carriers: 0

GenotypeQuality
all individuals: 113
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GenotypeQuality
all individuals: 122
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
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GenotypeQuality
all individuals: 3143
bin: 9.75e1
variant carriers: 86

GenotypeQuality
all individuals: 233
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1539
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GenotypeQuality
all individuals: 1278
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GenotypeQuality
all individuals: 8354
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.278205598337611e-4
allele num: 16362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64894
num of homozygotes: 0

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

East Asian
type: Population
allele count: 79
allele frequency: 9.228971962616822e-3
allele num: 8560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

DP
type: SiteQuality
SIO_000300: 1.541925e6

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 1.907e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.21e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

GenotypeQuality
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33060
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1544
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GenotypeQuality
all individuals: 3082
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3318
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variant carriers: 0

GenotypeQuality
all individuals: 108
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GenotypeQuality
all individuals: 8366
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variant carriers: 0

GenotypeQuality
all individuals: 4168
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540404818386272e-5
allele num: 64918
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.104e0

DP
type: SiteQuality
SIO_000300: 1.535677e6

VQSLOD
type: SiteQuality
SIO_000300: 7.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.92e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.916e1

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
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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GenotypeQuality
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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
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 4168
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3102
bin: 9.75e1
variant carriers: 28

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

South Asian
type: Population
allele count: 3
allele frequency: 1.831725485407254e-4
allele num: 16378
num of homozygotes: 0

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

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

African
type: Population
allele count: 14
allele frequency: 1.414427157001414e-3
allele num: 9898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.243852837862822e-5
allele num: 64908
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.353125544140693e-4
allele num: 11486
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 1.53875e6

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

FS
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1543
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539930395146139e-5
allele num: 64938
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.219809709685289e-4
allele num: 16396
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

DP
type: SiteQuality
SIO_000300: 1.536539e6

MQ
type: SiteQuality
SIO_000300: 5.995e1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

FS
type: SiteQuality
SIO_000300: 5.620000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

QD
type: SiteQuality
SIO_000300: 1.175e1

GenotypeQuality
all individuals: 1591
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 2979
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variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.026342451874367e-4
allele num: 9870
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65046
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.539641e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.09e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e0

QD
type: SiteQuality
SIO_000300: 1.262e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

GenotypeQuality
all individuals: 1285
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1591
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 86
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GenotypeQuality
all individuals: 16
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 88
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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: 4174
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2979
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537373551025428e-5
allele num: 65046
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.09e-1

QD
type: SiteQuality
SIO_000300: 1.262e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.539641e6

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 188
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3088
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9892
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: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65092
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.88e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 4.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.792e0

FS
type: SiteQuality
SIO_000300: 1.544e0

QD
type: SiteQuality
SIO_000300: 9.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

DP
type: SiteQuality
SIO_000300: 1.540377e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 162
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 199
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GenotypeQuality
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GenotypeQuality
all individuals: 6
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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: 8586
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 7.070707070707071e-4
allele num: 9900
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

DP
type: SiteQuality
SIO_000300: 1.541616e6

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

QD
type: SiteQuality
SIO_000300: 1.111e1

FS
type: SiteQuality
SIO_000300: 1.743e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.408e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534730961662421e-5
allele num: 65158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

MQRankSum
type: SiteQuality
SIO_000300: -1.666e0

FS
type: SiteQuality
SIO_000300: 1.2166e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.124e0

QD
type: SiteQuality
SIO_000300: 1.02e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 1.541576e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 60
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GenotypeQuality
all individuals: 38
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534260026389273e-5
allele num: 65178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.563e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.501e0

DP
type: SiteQuality
SIO_000300: 1.541369e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 3.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.04e-1

QD
type: SiteQuality
SIO_000300: 9.25e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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: 11522
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.089392278650591e-5
allele num: 16422
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65176
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.015e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-2

QD
type: SiteQuality
SIO_000300: 1.39e1

MQ
type: SiteQuality
SIO_000300: 5.927e1

MQRankSum
type: SiteQuality
SIO_000300: -1.091e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.714e0

FS
type: SiteQuality
SIO_000300: 1.2524e1

DP
type: SiteQuality
SIO_000300: 1.541499e6

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9876
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.094588005850804e-5
allele num: 16408
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e0

DP
type: SiteQuality
SIO_000300: 1.541056e6

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65050
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: 11536
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.128953174797744e-5
allele num: 16316
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9866
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 4.064e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.62e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 1.538612e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65050
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.027163997567403e-4
allele num: 9866
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.405e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 4.064e0

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

DP
type: SiteQuality
SIO_000300: 1.538612e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539029795616843e-5
allele num: 64976
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.029220779220779e-4
allele num: 9856
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.537412e6

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.409e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541734759951898e-5
allele num: 64862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16236
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MQRankSum
type: SiteQuality
SIO_000300: -1.14e-1

ReadPosRankSum
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FS
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SIO_000300: 1.428e0

BaseQRankSum
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MQ
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QD
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VQSLOD
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SIO_000300: 7.92e-1

ClippingRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.534041e6

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.564296520423601e-4
allele num: 6610
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.141552511415525e-3
allele num: 876
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.192909119058678e-5
allele num: 64590
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.203e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

DP
type: SiteQuality
SIO_000300: 1.526689e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

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

African
type: Population
allele count: 7
allele frequency: 7.213520197856554e-4
allele num: 9704
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.646984107314353e-5
allele num: 64558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 2
allele frequency: 2.326663564448581e-4
allele num: 8596
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15894
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MQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.21e-1

DP
type: SiteQuality
SIO_000300: 1.524846e6

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

FS
type: SiteQuality
SIO_000300: 5.45e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.78e-1

GenotypeQuality
all individuals: 105
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.25e1
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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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 2968
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554968123153475e-5
allele num: 64310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15662
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

QD
type: SiteQuality
SIO_000300: 9.92e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

VQSLOD
type: SiteQuality
SIO_000300: -1.88e-1

FS
type: SiteQuality
SIO_000300: 1.176e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.516869e6

GenotypeQuality
all individuals: 157
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.777501244400199e-5
allele num: 64288
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

DP
type: SiteQuality
SIO_000300: 1.517095e6

VQSLOD
type: SiteQuality
SIO_000300: 4.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.295e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 4146
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64200
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.29315918789603e-4
allele num: 15466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.426e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 1.511461e6

FS
type: SiteQuality
SIO_000300: 1.158e0

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

GenotypeQuality
all individuals: 2970
bin: 8.25e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9624
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.29315918789603e-4
allele num: 15466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 1.511461e6

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

FS
type: SiteQuality
SIO_000300: 1.158e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.426e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

GenotypeQuality
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bin: 6.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.150300853731531e-5
allele num: 63486
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.064962726304579e-4
allele num: 9390
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.691117677733357e-5
allele num: 11506
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14618
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 1.486697e6

QD
type: SiteQuality
SIO_000300: 1.466e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

FS
type: SiteQuality
SIO_000300: 6.709e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9374
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.733921815889029e-4
allele num: 63440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.0e-2

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.925e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14376
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164958061509786e-4
allele num: 8584
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63302
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.053e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.477875e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 526
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.584786053882726e-5
allele num: 63100
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

QD
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SIO_000300: 1.418e1

FS
type: SiteQuality
SIO_000300: 2.491e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.54e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 1.472076e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.41e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62920
num of homozygotes: 0

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

African
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allele frequency: 1.093852548676438e-4
allele num: 9142
num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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DP
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FS
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SIO_000300: 0.0e0

VQSLOD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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SIO_000300: -5.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8994
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.602153294027173e-5
allele num: 62416
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: -8.079e-1

DP
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SIO_000300: 1.445622e6

BaseQRankSum
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SIO_000300: 3.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

FS
type: SiteQuality
SIO_000300: 5.449e0

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.054e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62296
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8942
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.339728591483388e-4
allele num: 8548
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12932
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.521e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.01e-1

FS
type: SiteQuality
SIO_000300: 1.2053e1

VQSLOD
type: SiteQuality
SIO_000300: -1.315e0

DP
type: SiteQuality
SIO_000300: 1.442327e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.63e-1

GenotypeQuality
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variant carriers: 4

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8948
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.420545746388443e-5
allele num: 62300
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12952
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

MQRankSum
type: SiteQuality
SIO_000300: -2.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.442073e6

QD
type: SiteQuality
SIO_000300: 1.145e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8926
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.608389358896001e-5
allele num: 62174
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 1.15e0

MQRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8784
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.242857606122515e-5
allele num: 61674
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 8.719916288803627e-5
allele num: 11468
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.902e0

ReadPosRankSum
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VQSLOD
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MQRankSum
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DP
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QD
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FS
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MQ
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

East Asian
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allele num: 8526
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African
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allele frequency: 0.0e0
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Other
type: Population
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South Asian
type: Population
allele count: 0
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Latino
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allele frequency: 0.0e0
allele num: 11420
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European (Finnish)
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MQRankSum
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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FS
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QD
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ReadPosRankSum
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.630948886061911e-5
allele num: 61314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10428
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.604e1

MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 6.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

DP
type: SiteQuality
SIO_000300: 1.411999e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

GenotypeQuality
all individuals: 25021
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2945
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3193
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4090
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2965
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3739
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1281
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3097
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.516990291262136e-4
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.630948886061911e-5
allele num: 61314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8688
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

FS
type: SiteQuality
SIO_000300: 6.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

QD
type: SiteQuality
SIO_000300: 1.604e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

DP
type: SiteQuality
SIO_000300: 1.411999e6

GenotypeQuality
all individuals: 194
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4099
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3021
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7698
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3660
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24789
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3107
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1543
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1281
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2970
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.631960310725243e-5
allele num: 61276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.175364362952515e-4
allele num: 8508
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.906077348066298e-4
allele num: 8688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.194e1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

DP
type: SiteQuality
SIO_000300: 1.410849e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.974e0

GenotypeQuality
all individuals: 1072
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7615
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23089
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3148
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3077
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1544
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3185
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4123
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.636018585171127e-5
allele num: 61124
num of homozygotes: 0

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